Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-12

AUTHORS

Noel Peretti, Agnès Sassolas, Claude C Roy, Colette Deslandres, Mathilde Charcosset, Justine Castagnetti, Laurence Pugnet-Chardon, Philippe Moulin, Sylvie Labarge, Lise Bouthillier, Alain Lachaux, Emile Levy

ABSTRACT

Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, failure to thrive, growth failure and vitamin E deficiency, as well as other complications. Recently, the gene implicated in CRD was identified. The diagnosis is often delayed because symptoms are nonspecific. Treatment and follow-up remain poorly defined.The aim of this paper is to provide guidelines for the diagnosis, treatment and follow-up of children with CRD based on a literature overview and two pediatric centers 'experience.The diagnosis is based on a history of chronic diarrhea with fat malabsorption and abnormal lipid profile. Upper endoscopy and histology reveal fat-laden enterocytes whereas vitamin E deficiency is invariably present. Creatine kinase (CK) is usually elevated and hepatic steatosis is common. Genotyping identifies the Sar1b gene mutation.Treatment should be aimed at preventing potential complications. Vomiting, diarrhea and abdominal distension improve on a low-long chain fat diet. Failure to thrive is one of the most common initial clinical findings. Neurological and ophthalmologic complications in CRD are less severe than in other types of familial hypocholesterolemia. However, the vitamin E deficiency status plays a pivotal role in preventing neurological complications. Essential fatty acid (EFA) deficiency is especially severe early in life. Recently, increased CK levels and cardiomyopathy have been described in addition to muscular manifestations. Poor mineralization and delayed bone maturation do occur. A moderate degree of macrovesicular steatosis is common, but no cases of steatohepatitis cirrhosis. Besides a low-long chain fat diet made up uniquely of polyunsaturated fatty acids, treatment includes fat-soluble vitamin supplements and large amounts of vitamin E. Despite fat malabsorption and the absence of postprandial chylomicrons, the oral route can prevent neurological complications even though serum levels of vitamin E remain chronically low. Dietary counseling is needed not only to monitor fat intake and improve symptoms, but also to maintain sufficient caloric and EFA intake. Despite a better understanding of the pathogenesis of CRD, the diagnosis and management of the disease remain a challenge for clinicians. The clinical guidelines proposed will helpfully lead to an earlier diagnosis and the prevention of complications. More... »

PAGES

24

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1750-1172-5-24

DOI

http://dx.doi.org/10.1186/1750-1172-5-24

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1043283254

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20920215


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Anthropometry", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child, Preschool", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chylomicrons", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cohort Studies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Diarrhea", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fatty Acids", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Growth Disorders", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Lipid Metabolism Disorders", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Malabsorption Syndromes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Malnutrition", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Monomeric GTP-Binding Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Nervous System Diseases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Vitamin E Deficiency", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Femme-M\u00e8re-Enfant", 
          "id": "https://www.grid.ac/institutes/grid.414103.3", 
          "name": [
            "Department of Nutrition, CHU Sainte-Justine Research Center, Universit\u00e9 de Montr\u00e9al, 3175, Ste-Catherine Road, H3T 1C5, Montreal, Quebec, Canada", 
            "Department of Nutrition-Hepatogastroenterology, H\u00f4pital Femme M\u00e8re Enfant, Bron, Universit\u00e9 Lyon 1, F-69003, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Peretti", 
        "givenName": "Noel", 
        "id": "sg:person.0621126521.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0621126521.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospices Civils de Lyon", 
          "id": "https://www.grid.ac/institutes/grid.413852.9", 
          "name": [
            "Hospices Civils de Lyon, Universit\u00e9 Lyon 1; UMR 870, INSERM 8-870, INRA U-1235, F-69002, Lyon, France", 
            "UF Dyslipidemia Laboratory, Centre de Biologie Est, Biochemistry Laboratory, and Department of Endocrinology, H\u00f4pital Neurologique et Cardiologique, Hospices Civils de Lyon, F-69003, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sassolas", 
        "givenName": "Agn\u00e8s", 
        "id": "sg:person.01247205064.87", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01247205064.87"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Montreal", 
          "id": "https://www.grid.ac/institutes/grid.14848.31", 
          "name": [
            "Department of Pediatrics, CHU Sainte-Justine Research Center, Universit\u00e9 de Montr\u00e9al, 3175, Ste-Catherine Road, H3T 1C5, Montreal, Quebec, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Roy", 
        "givenName": "Claude C", 
        "id": "sg:person.01276266715.79", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01276266715.79"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Montreal", 
          "id": "https://www.grid.ac/institutes/grid.14848.31", 
          "name": [
            "Department of Pediatrics, CHU Sainte-Justine Research Center, Universit\u00e9 de Montr\u00e9al, 3175, Ste-Catherine Road, H3T 1C5, Montreal, Quebec, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Deslandres", 
        "givenName": "Colette", 
        "id": "sg:person.01165201714.56", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165201714.56"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospices Civils de Lyon", 
          "id": "https://www.grid.ac/institutes/grid.413852.9", 
          "name": [
            "Hospices Civils de Lyon, Universit\u00e9 Lyon 1; UMR 870, INSERM 8-870, INRA U-1235, F-69002, Lyon, France", 
            "UF Dyslipidemia Laboratory, Centre de Biologie Est, Biochemistry Laboratory, and Department of Endocrinology, H\u00f4pital Neurologique et Cardiologique, Hospices Civils de Lyon, F-69003, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Charcosset", 
        "givenName": "Mathilde", 
        "id": "sg:person.01211077324.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01211077324.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Femme-M\u00e8re-Enfant", 
          "id": "https://www.grid.ac/institutes/grid.414103.3", 
          "name": [
            "Hospices Civils de Lyon, Universit\u00e9 Lyon 1; UMR 870, INSERM 8-870, INRA U-1235, F-69002, Lyon, France", 
            "Department of Nutrition-Hepatogastroenterology, H\u00f4pital Femme M\u00e8re Enfant, Bron, Universit\u00e9 Lyon 1, F-69003, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Castagnetti", 
        "givenName": "Justine", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Femme-M\u00e8re-Enfant", 
          "id": "https://www.grid.ac/institutes/grid.414103.3", 
          "name": [
            "Department of Nutrition-Hepatogastroenterology, H\u00f4pital Femme M\u00e8re Enfant, Bron, Universit\u00e9 Lyon 1, F-69003, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pugnet-Chardon", 
        "givenName": "Laurence", 
        "id": "sg:person.01216115543.62", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01216115543.62"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospices Civils de Lyon", 
          "id": "https://www.grid.ac/institutes/grid.413852.9", 
          "name": [
            "Hospices Civils de Lyon, Universit\u00e9 Lyon 1; UMR 870, INSERM 8-870, INRA U-1235, F-69002, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Moulin", 
        "givenName": "Philippe", 
        "id": "sg:person.0717415520.78", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717415520.78"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Femme-M\u00e8re-Enfant", 
          "id": "https://www.grid.ac/institutes/grid.414103.3", 
          "name": [
            "Department of Nutrition-Hepatogastroenterology, H\u00f4pital Femme M\u00e8re Enfant, Bron, Universit\u00e9 Lyon 1, F-69003, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Labarge", 
        "givenName": "Sylvie", 
        "id": "sg:person.0644173724.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0644173724.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Montreal", 
          "id": "https://www.grid.ac/institutes/grid.14848.31", 
          "name": [
            "Department of Pediatrics, CHU Sainte-Justine Research Center, Universit\u00e9 de Montr\u00e9al, 3175, Ste-Catherine Road, H3T 1C5, Montreal, Quebec, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bouthillier", 
        "givenName": "Lise", 
        "id": "sg:person.01215432437.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01215432437.63"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Femme-M\u00e8re-Enfant", 
          "id": "https://www.grid.ac/institutes/grid.414103.3", 
          "name": [
            "Department of Nutrition-Hepatogastroenterology, H\u00f4pital Femme M\u00e8re Enfant, Bron, Universit\u00e9 Lyon 1, F-69003, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lachaux", 
        "givenName": "Alain", 
        "id": "sg:person.01160307226.69", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01160307226.69"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Montreal", 
          "id": "https://www.grid.ac/institutes/grid.14848.31", 
          "name": [
            "Department of Nutrition, CHU Sainte-Justine Research Center, Universit\u00e9 de Montr\u00e9al, 3175, Ste-Catherine Road, H3T 1C5, Montreal, Quebec, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Levy", 
        "givenName": "Emile", 
        "id": "sg:person.0624753222.03", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624753222.03"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.metabol.2009.07.042", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001117316"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00005176-199304000-00006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002804554"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00005176-199304000-00006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002804554"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2009.02.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003188227"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/35043117", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003610067", 
          "https://doi.org/10.1038/35043117"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/35043117", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003610067", 
          "https://doi.org/10.1038/35043117"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/35043117", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003610067", 
          "https://doi.org/10.1038/35043117"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2362.1995.tb01559.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005451759"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0092-8674(00)81577-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006892187"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1242/jcs.00215", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007965653"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0016-5085(87)90133-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009259338"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.atherosclerosissup.2010.03.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009280625"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/mpg.0b013e318183188f", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009361929"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/mpg.0b013e318183188f", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009361929"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/mpg.0b013e318183188f", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009361929"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci1785", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011892851"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.atherosclerosis.2009.01.037", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013598421"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1242/jcs.02803", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014520638"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1053/j.semnuclmed.2007.02.007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015961504"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1440-1754.2000.00534.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016241224"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/meg.0b013e3282ffd9f8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017271141"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/meg.0b013e3282ffd9f8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017271141"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/meg.0b013e3282ffd9f8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017271141"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01800666", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017851221", 
          "https://doi.org/10.1007/bf01800666"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1007/bf01800666", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017851221"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004310050882", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019037000", 
          "https://doi.org/10.1007/s004310050882"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00041433-200404000-00012", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019458943"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00041433-200404000-00012", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019458943"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0969-8043(97)00195-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019799987"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2007.08.120", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020033838"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.410140517", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022089937"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2710.2009.01027.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025788755"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/365065a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025848365", 
          "https://doi.org/10.1038/365065a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci114996", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031047657"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci110173", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032762067"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1146/annurev.nutr.20.1.663", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036265334"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10620-006-9489-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037535506", 
          "https://doi.org/10.1007/s10620-006-9489-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1145", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038227560", 
          "https://doi.org/10.1038/ng1145"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1145", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038227560", 
          "https://doi.org/10.1038/ng1145"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0021-9150(94)90115-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040622224"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1161/01.atv.19.10.2494", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043691181"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1651-2227.1978.tb16264.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044103930"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1146/annurev-physiol-021909-135801", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044871917"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1161/01.cir.98.1.13", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045598913"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0092-8674(94)90138-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046909955"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1203/00006450-198003000-00004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047566963", 
          "https://doi.org/10.1203/00006450-198003000-00004"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.2008.01069.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047914121"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci112590", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051241724"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1042/bj20071469", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053229028"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1042/bj20071469", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053229028"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/gut.20.2.163", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053281106"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00004836-199804000-00012", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1060191544"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00004836-199804000-00012", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1060191544"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00004836-199804000-00012", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1060191544"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1439810", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062482260"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.30.12.1286", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064363312"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.43.11.2167", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064371157"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.50.6.1900", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064376353"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.50.6.1900", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064376353"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.50.6.1900", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064376353"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.50.6.1900", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064376353"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1076072023", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.5694/j.1326-5377.1961.tb69860.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1076072023"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1078424018", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1079086497", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1080148343", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/ajcn/27.8.1174", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1080194978"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1080557444", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1081068657", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082191844", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082637555", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082819075", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2010-12", 
    "datePublishedReg": "2010-12-01", 
    "description": "Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, failure to thrive, growth failure and vitamin E deficiency, as well as other complications. Recently, the gene implicated in CRD was identified. The diagnosis is often delayed because symptoms are nonspecific. Treatment and follow-up remain poorly defined.The aim of this paper is to provide guidelines for the diagnosis, treatment and follow-up of children with CRD based on a literature overview and two pediatric centers 'experience.The diagnosis is based on a history of chronic diarrhea with fat malabsorption and abnormal lipid profile. Upper endoscopy and histology reveal fat-laden enterocytes whereas vitamin E deficiency is invariably present. Creatine kinase (CK) is usually elevated and hepatic steatosis is common. Genotyping identifies the Sar1b gene mutation.Treatment should be aimed at preventing potential complications. Vomiting, diarrhea and abdominal distension improve on a low-long chain fat diet. Failure to thrive is one of the most common initial clinical findings. Neurological and ophthalmologic complications in CRD are less severe than in other types of familial hypocholesterolemia. However, the vitamin E deficiency status plays a pivotal role in preventing neurological complications. Essential fatty acid (EFA) deficiency is especially severe early in life. Recently, increased CK levels and cardiomyopathy have been described in addition to muscular manifestations. Poor mineralization and delayed bone maturation do occur. A moderate degree of macrovesicular steatosis is common, but no cases of steatohepatitis cirrhosis. Besides a low-long chain fat diet made up uniquely of polyunsaturated fatty acids, treatment includes fat-soluble vitamin supplements and large amounts of vitamin E. Despite fat malabsorption and the absence of postprandial chylomicrons, the oral route can prevent neurological complications even though serum levels of vitamin E remain chronically low. Dietary counseling is needed not only to monitor fat intake and improve symptoms, but also to maintain sufficient caloric and EFA intake. Despite a better understanding of the pathogenesis of CRD, the diagnosis and management of the disease remain a challenge for clinicians. The clinical guidelines proposed will helpfully lead to an earlier diagnosis and the prevention of complications.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/1750-1172-5-24", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1036535", 
        "issn": [
          "1750-1172"
        ], 
        "name": "Orphanet Journal of Rare Diseases", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "5"
      }
    ], 
    "name": "Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers", 
    "pagination": "24", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "ce2c5357f38c8273961072344471dbcf2eb19fec290a199e77f5bd92be81867e"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "20920215"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101266602"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/1750-1172-5-24"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1043283254"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/1750-1172-5-24", 
      "https://app.dimensions.ai/details/publication/pub.1043283254"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T01:08", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8697_00000515.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1186%2F1750-1172-5-24"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/1750-1172-5-24'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/1750-1172-5-24'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/1750-1172-5-24'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/1750-1172-5-24'


 

This table displays all metadata directly associated to this object as RDF triples.

403 TRIPLES      21 PREDICATES      106 URIs      41 LITERALS      29 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/1750-1172-5-24 schema:about N05352c51037e457fbee913f6e293515f
2 N11a52c2b2a504a1c89bc7973b915bbbc
3 N2be541f5cbfc48c9bee14e3f1982f27f
4 N2ce10ff55bcd4906b6b202fba96f0356
5 N3396e86905d141b796b4d187a3e5e5b3
6 N4b7f2b7c55754d7281ef915c206ffee5
7 N59657c7c9a83416480e633bb3d0cdd06
8 N616a0b72aebb400e8676317f611da85e
9 N6cb452025a6a4477a6af61cea179afb2
10 N76d418a919a54018921e22dcff8bed54
11 N7b528543f6d5478a8f1276fe7cd6928b
12 Na68322af9e164edda4dcee95e76ce21b
13 Nac9a2300ad714b718147d7e55d20da9c
14 Nba66498909464ca98a2835674b83e276
15 Nbc0119c6fe9944e4a9e4352ef95a2054
16 Nbf5178bb679944f8bc48661e70e30e0b
17 Ncebba689b5af4cacb48e9920e3fb2edf
18 Ndac216f9e65d4359b84aca36df52b346
19 Nef692237e0d349b398d62d5d3f0f1758
20 Nefe62e54d1bb4374a3672c09c546e34e
21 anzsrc-for:11
22 anzsrc-for:1103
23 schema:author N56b94fd12b6348d8badb676ae588ac61
24 schema:citation sg:pub.10.1007/bf01800666
25 sg:pub.10.1007/s004310050882
26 sg:pub.10.1007/s10620-006-9489-2
27 sg:pub.10.1038/35043117
28 sg:pub.10.1038/365065a0
29 sg:pub.10.1038/ng1145
30 sg:pub.10.1203/00006450-198003000-00004
31 https://app.dimensions.ai/details/publication/pub.1076072023
32 https://app.dimensions.ai/details/publication/pub.1078424018
33 https://app.dimensions.ai/details/publication/pub.1079086497
34 https://app.dimensions.ai/details/publication/pub.1080148343
35 https://app.dimensions.ai/details/publication/pub.1080557444
36 https://app.dimensions.ai/details/publication/pub.1081068657
37 https://app.dimensions.ai/details/publication/pub.1082191844
38 https://app.dimensions.ai/details/publication/pub.1082637555
39 https://app.dimensions.ai/details/publication/pub.1082819075
40 https://doi.org/10.1002/ana.410140517
41 https://doi.org/10.1007/bf01800666
42 https://doi.org/10.1016/0016-5085(87)90133-8
43 https://doi.org/10.1016/0021-9150(94)90115-5
44 https://doi.org/10.1016/0092-8674(94)90138-4
45 https://doi.org/10.1016/j.atherosclerosis.2009.01.037
46 https://doi.org/10.1016/j.atherosclerosissup.2010.03.003
47 https://doi.org/10.1016/j.metabol.2009.07.042
48 https://doi.org/10.1016/j.ymgme.2007.08.120
49 https://doi.org/10.1016/j.ymgme.2009.02.003
50 https://doi.org/10.1016/s0092-8674(00)81577-9
51 https://doi.org/10.1016/s0969-8043(97)00195-4
52 https://doi.org/10.1042/bj20071469
53 https://doi.org/10.1046/j.1440-1754.2000.00534.x
54 https://doi.org/10.1053/j.semnuclmed.2007.02.007
55 https://doi.org/10.1093/ajcn/27.8.1174
56 https://doi.org/10.1097/00004836-199804000-00012
57 https://doi.org/10.1097/00005176-199304000-00006
58 https://doi.org/10.1097/00041433-200404000-00012
59 https://doi.org/10.1097/meg.0b013e3282ffd9f8
60 https://doi.org/10.1097/mpg.0b013e318183188f
61 https://doi.org/10.1111/j.1365-2362.1995.tb01559.x
62 https://doi.org/10.1111/j.1365-2710.2009.01027.x
63 https://doi.org/10.1111/j.1399-0004.2008.01069.x
64 https://doi.org/10.1111/j.1651-2227.1978.tb16264.x
65 https://doi.org/10.1126/science.1439810
66 https://doi.org/10.1136/gut.20.2.163
67 https://doi.org/10.1146/annurev-physiol-021909-135801
68 https://doi.org/10.1146/annurev.nutr.20.1.663
69 https://doi.org/10.1161/01.atv.19.10.2494
70 https://doi.org/10.1161/01.cir.98.1.13
71 https://doi.org/10.1172/jci110173
72 https://doi.org/10.1172/jci112590
73 https://doi.org/10.1172/jci114996
74 https://doi.org/10.1172/jci1785
75 https://doi.org/10.1212/wnl.30.12.1286
76 https://doi.org/10.1212/wnl.43.11.2167
77 https://doi.org/10.1212/wnl.50.6.1900
78 https://doi.org/10.1242/jcs.00215
79 https://doi.org/10.1242/jcs.02803
80 https://doi.org/10.5694/j.1326-5377.1961.tb69860.x
81 schema:datePublished 2010-12
82 schema:datePublishedReg 2010-12-01
83 schema:description Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, failure to thrive, growth failure and vitamin E deficiency, as well as other complications. Recently, the gene implicated in CRD was identified. The diagnosis is often delayed because symptoms are nonspecific. Treatment and follow-up remain poorly defined.The aim of this paper is to provide guidelines for the diagnosis, treatment and follow-up of children with CRD based on a literature overview and two pediatric centers 'experience.The diagnosis is based on a history of chronic diarrhea with fat malabsorption and abnormal lipid profile. Upper endoscopy and histology reveal fat-laden enterocytes whereas vitamin E deficiency is invariably present. Creatine kinase (CK) is usually elevated and hepatic steatosis is common. Genotyping identifies the Sar1b gene mutation.Treatment should be aimed at preventing potential complications. Vomiting, diarrhea and abdominal distension improve on a low-long chain fat diet. Failure to thrive is one of the most common initial clinical findings. Neurological and ophthalmologic complications in CRD are less severe than in other types of familial hypocholesterolemia. However, the vitamin E deficiency status plays a pivotal role in preventing neurological complications. Essential fatty acid (EFA) deficiency is especially severe early in life. Recently, increased CK levels and cardiomyopathy have been described in addition to muscular manifestations. Poor mineralization and delayed bone maturation do occur. A moderate degree of macrovesicular steatosis is common, but no cases of steatohepatitis cirrhosis. Besides a low-long chain fat diet made up uniquely of polyunsaturated fatty acids, treatment includes fat-soluble vitamin supplements and large amounts of vitamin E. Despite fat malabsorption and the absence of postprandial chylomicrons, the oral route can prevent neurological complications even though serum levels of vitamin E remain chronically low. Dietary counseling is needed not only to monitor fat intake and improve symptoms, but also to maintain sufficient caloric and EFA intake. Despite a better understanding of the pathogenesis of CRD, the diagnosis and management of the disease remain a challenge for clinicians. The clinical guidelines proposed will helpfully lead to an earlier diagnosis and the prevention of complications.
84 schema:genre research_article
85 schema:inLanguage en
86 schema:isAccessibleForFree true
87 schema:isPartOf N6e061dc62d0c4c5e868659f55a146825
88 Ne928f8dc911e46d7ae20a533b01b156e
89 sg:journal.1036535
90 schema:name Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers
91 schema:pagination 24
92 schema:productId N48c17e4143734e67a0e43ef1423da6fc
93 N70a3eb8350aa4122b75c18f7a430060b
94 Nac2b2c79efa84b6ab678cc23db0b348d
95 Nbfbd6f47a7fc43369931347d1c12cb21
96 Nd2477ef322c94f488f500bf3aca8f335
97 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043283254
98 https://doi.org/10.1186/1750-1172-5-24
99 schema:sdDatePublished 2019-04-11T01:08
100 schema:sdLicense https://scigraph.springernature.com/explorer/license/
101 schema:sdPublisher N6fea8b626fae434b9c1903e914674d4a
102 schema:url http://link.springer.com/10.1186%2F1750-1172-5-24
103 sgo:license sg:explorer/license/
104 sgo:sdDataset articles
105 rdf:type schema:ScholarlyArticle
106 N05352c51037e457fbee913f6e293515f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
107 schema:name Diarrhea
108 rdf:type schema:DefinedTerm
109 N05f3391cdc464e1fbf16db2afb840fdf schema:affiliation https://www.grid.ac/institutes/grid.414103.3
110 schema:familyName Castagnetti
111 schema:givenName Justine
112 rdf:type schema:Person
113 N11a52c2b2a504a1c89bc7973b915bbbc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name Lipid Metabolism Disorders
115 rdf:type schema:DefinedTerm
116 N2be541f5cbfc48c9bee14e3f1982f27f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
117 schema:name Chylomicrons
118 rdf:type schema:DefinedTerm
119 N2ce10ff55bcd4906b6b202fba96f0356 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
120 schema:name Mutation
121 rdf:type schema:DefinedTerm
122 N3396e86905d141b796b4d187a3e5e5b3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
123 schema:name Child, Preschool
124 rdf:type schema:DefinedTerm
125 N3667d406383d4d598006cb4831d72988 rdf:first sg:person.01276266715.79
126 rdf:rest Nbd63b1cf19c84c668efeb812db8bf8ba
127 N4133f00527144dfdb616e0c56716f63d rdf:first sg:person.01216115543.62
128 rdf:rest N782836e8ee7c4d7bba59ad23a98243f4
129 N48c17e4143734e67a0e43ef1423da6fc schema:name nlm_unique_id
130 schema:value 101266602
131 rdf:type schema:PropertyValue
132 N4b7f2b7c55754d7281ef915c206ffee5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
133 schema:name Malabsorption Syndromes
134 rdf:type schema:DefinedTerm
135 N56b94fd12b6348d8badb676ae588ac61 rdf:first sg:person.0621126521.12
136 rdf:rest Na70d7ee9135d4cb8869205acdca10526
137 N59657c7c9a83416480e633bb3d0cdd06 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
138 schema:name Growth Disorders
139 rdf:type schema:DefinedTerm
140 N616a0b72aebb400e8676317f611da85e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
141 schema:name Humans
142 rdf:type schema:DefinedTerm
143 N6cb452025a6a4477a6af61cea179afb2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
144 schema:name Adult
145 rdf:type schema:DefinedTerm
146 N6dcb866779f24bbca3d5fedfd393bdb3 rdf:first sg:person.0624753222.03
147 rdf:rest rdf:nil
148 N6e061dc62d0c4c5e868659f55a146825 schema:volumeNumber 5
149 rdf:type schema:PublicationVolume
150 N6fea8b626fae434b9c1903e914674d4a schema:name Springer Nature - SN SciGraph project
151 rdf:type schema:Organization
152 N70a3eb8350aa4122b75c18f7a430060b schema:name dimensions_id
153 schema:value pub.1043283254
154 rdf:type schema:PropertyValue
155 N76d418a919a54018921e22dcff8bed54 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
156 schema:name Nervous System Diseases
157 rdf:type schema:DefinedTerm
158 N782836e8ee7c4d7bba59ad23a98243f4 rdf:first sg:person.0717415520.78
159 rdf:rest N7f1c1dae460a4f3292b6131fcd1359f3
160 N7b528543f6d5478a8f1276fe7cd6928b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
161 schema:name Anthropometry
162 rdf:type schema:DefinedTerm
163 N7f1c1dae460a4f3292b6131fcd1359f3 rdf:first sg:person.0644173724.31
164 rdf:rest Nfe94d4989190420db04fddb649a0ad9f
165 N9bf8c91d2dd24f73986db7b6e0307f08 rdf:first sg:person.01211077324.58
166 rdf:rest Ndaa393526d284fafa90eab6a4718cc85
167 Na6300a3f4af4406881e466553b699986 rdf:first sg:person.01160307226.69
168 rdf:rest N6dcb866779f24bbca3d5fedfd393bdb3
169 Na68322af9e164edda4dcee95e76ce21b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
170 schema:name Malnutrition
171 rdf:type schema:DefinedTerm
172 Na70d7ee9135d4cb8869205acdca10526 rdf:first sg:person.01247205064.87
173 rdf:rest N3667d406383d4d598006cb4831d72988
174 Nac2b2c79efa84b6ab678cc23db0b348d schema:name doi
175 schema:value 10.1186/1750-1172-5-24
176 rdf:type schema:PropertyValue
177 Nac9a2300ad714b718147d7e55d20da9c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
178 schema:name Monomeric GTP-Binding Proteins
179 rdf:type schema:DefinedTerm
180 Nba66498909464ca98a2835674b83e276 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
181 schema:name Fatty Acids
182 rdf:type schema:DefinedTerm
183 Nbc0119c6fe9944e4a9e4352ef95a2054 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
184 schema:name Female
185 rdf:type schema:DefinedTerm
186 Nbd63b1cf19c84c668efeb812db8bf8ba rdf:first sg:person.01165201714.56
187 rdf:rest N9bf8c91d2dd24f73986db7b6e0307f08
188 Nbf5178bb679944f8bc48661e70e30e0b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
189 schema:name Vitamin E Deficiency
190 rdf:type schema:DefinedTerm
191 Nbfbd6f47a7fc43369931347d1c12cb21 schema:name readcube_id
192 schema:value ce2c5357f38c8273961072344471dbcf2eb19fec290a199e77f5bd92be81867e
193 rdf:type schema:PropertyValue
194 Ncebba689b5af4cacb48e9920e3fb2edf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
195 schema:name Male
196 rdf:type schema:DefinedTerm
197 Nd2477ef322c94f488f500bf3aca8f335 schema:name pubmed_id
198 schema:value 20920215
199 rdf:type schema:PropertyValue
200 Ndaa393526d284fafa90eab6a4718cc85 rdf:first N05f3391cdc464e1fbf16db2afb840fdf
201 rdf:rest N4133f00527144dfdb616e0c56716f63d
202 Ndac216f9e65d4359b84aca36df52b346 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
203 schema:name Infant
204 rdf:type schema:DefinedTerm
205 Ne928f8dc911e46d7ae20a533b01b156e schema:issueNumber 1
206 rdf:type schema:PublicationIssue
207 Nef692237e0d349b398d62d5d3f0f1758 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
208 schema:name Child
209 rdf:type schema:DefinedTerm
210 Nefe62e54d1bb4374a3672c09c546e34e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
211 schema:name Cohort Studies
212 rdf:type schema:DefinedTerm
213 Nfe94d4989190420db04fddb649a0ad9f rdf:first sg:person.01215432437.63
214 rdf:rest Na6300a3f4af4406881e466553b699986
215 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
216 schema:name Medical and Health Sciences
217 rdf:type schema:DefinedTerm
218 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
219 schema:name Clinical Sciences
220 rdf:type schema:DefinedTerm
221 sg:journal.1036535 schema:issn 1750-1172
222 schema:name Orphanet Journal of Rare Diseases
223 rdf:type schema:Periodical
224 sg:person.01160307226.69 schema:affiliation https://www.grid.ac/institutes/grid.414103.3
225 schema:familyName Lachaux
226 schema:givenName Alain
227 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01160307226.69
228 rdf:type schema:Person
229 sg:person.01165201714.56 schema:affiliation https://www.grid.ac/institutes/grid.14848.31
230 schema:familyName Deslandres
231 schema:givenName Colette
232 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165201714.56
233 rdf:type schema:Person
234 sg:person.01211077324.58 schema:affiliation https://www.grid.ac/institutes/grid.413852.9
235 schema:familyName Charcosset
236 schema:givenName Mathilde
237 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01211077324.58
238 rdf:type schema:Person
239 sg:person.01215432437.63 schema:affiliation https://www.grid.ac/institutes/grid.14848.31
240 schema:familyName Bouthillier
241 schema:givenName Lise
242 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01215432437.63
243 rdf:type schema:Person
244 sg:person.01216115543.62 schema:affiliation https://www.grid.ac/institutes/grid.414103.3
245 schema:familyName Pugnet-Chardon
246 schema:givenName Laurence
247 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01216115543.62
248 rdf:type schema:Person
249 sg:person.01247205064.87 schema:affiliation https://www.grid.ac/institutes/grid.413852.9
250 schema:familyName Sassolas
251 schema:givenName Agnès
252 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01247205064.87
253 rdf:type schema:Person
254 sg:person.01276266715.79 schema:affiliation https://www.grid.ac/institutes/grid.14848.31
255 schema:familyName Roy
256 schema:givenName Claude C
257 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01276266715.79
258 rdf:type schema:Person
259 sg:person.0621126521.12 schema:affiliation https://www.grid.ac/institutes/grid.414103.3
260 schema:familyName Peretti
261 schema:givenName Noel
262 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0621126521.12
263 rdf:type schema:Person
264 sg:person.0624753222.03 schema:affiliation https://www.grid.ac/institutes/grid.14848.31
265 schema:familyName Levy
266 schema:givenName Emile
267 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624753222.03
268 rdf:type schema:Person
269 sg:person.0644173724.31 schema:affiliation https://www.grid.ac/institutes/grid.414103.3
270 schema:familyName Labarge
271 schema:givenName Sylvie
272 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0644173724.31
273 rdf:type schema:Person
274 sg:person.0717415520.78 schema:affiliation https://www.grid.ac/institutes/grid.413852.9
275 schema:familyName Moulin
276 schema:givenName Philippe
277 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717415520.78
278 rdf:type schema:Person
279 sg:pub.10.1007/bf01800666 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017851221
280 https://doi.org/10.1007/bf01800666
281 rdf:type schema:CreativeWork
282 sg:pub.10.1007/s004310050882 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019037000
283 https://doi.org/10.1007/s004310050882
284 rdf:type schema:CreativeWork
285 sg:pub.10.1007/s10620-006-9489-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037535506
286 https://doi.org/10.1007/s10620-006-9489-2
287 rdf:type schema:CreativeWork
288 sg:pub.10.1038/35043117 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003610067
289 https://doi.org/10.1038/35043117
290 rdf:type schema:CreativeWork
291 sg:pub.10.1038/365065a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025848365
292 https://doi.org/10.1038/365065a0
293 rdf:type schema:CreativeWork
294 sg:pub.10.1038/ng1145 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038227560
295 https://doi.org/10.1038/ng1145
296 rdf:type schema:CreativeWork
297 sg:pub.10.1203/00006450-198003000-00004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047566963
298 https://doi.org/10.1203/00006450-198003000-00004
299 rdf:type schema:CreativeWork
300 https://app.dimensions.ai/details/publication/pub.1076072023 schema:CreativeWork
301 https://app.dimensions.ai/details/publication/pub.1078424018 schema:CreativeWork
302 https://app.dimensions.ai/details/publication/pub.1079086497 schema:CreativeWork
303 https://app.dimensions.ai/details/publication/pub.1080148343 schema:CreativeWork
304 https://app.dimensions.ai/details/publication/pub.1080557444 schema:CreativeWork
305 https://app.dimensions.ai/details/publication/pub.1081068657 schema:CreativeWork
306 https://app.dimensions.ai/details/publication/pub.1082191844 schema:CreativeWork
307 https://app.dimensions.ai/details/publication/pub.1082637555 schema:CreativeWork
308 https://app.dimensions.ai/details/publication/pub.1082819075 schema:CreativeWork
309 https://doi.org/10.1002/ana.410140517 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022089937
310 rdf:type schema:CreativeWork
311 https://doi.org/10.1007/bf01800666 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017851221
312 rdf:type schema:CreativeWork
313 https://doi.org/10.1016/0016-5085(87)90133-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009259338
314 rdf:type schema:CreativeWork
315 https://doi.org/10.1016/0021-9150(94)90115-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040622224
316 rdf:type schema:CreativeWork
317 https://doi.org/10.1016/0092-8674(94)90138-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046909955
318 rdf:type schema:CreativeWork
319 https://doi.org/10.1016/j.atherosclerosis.2009.01.037 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013598421
320 rdf:type schema:CreativeWork
321 https://doi.org/10.1016/j.atherosclerosissup.2010.03.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009280625
322 rdf:type schema:CreativeWork
323 https://doi.org/10.1016/j.metabol.2009.07.042 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001117316
324 rdf:type schema:CreativeWork
325 https://doi.org/10.1016/j.ymgme.2007.08.120 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020033838
326 rdf:type schema:CreativeWork
327 https://doi.org/10.1016/j.ymgme.2009.02.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003188227
328 rdf:type schema:CreativeWork
329 https://doi.org/10.1016/s0092-8674(00)81577-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006892187
330 rdf:type schema:CreativeWork
331 https://doi.org/10.1016/s0969-8043(97)00195-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019799987
332 rdf:type schema:CreativeWork
333 https://doi.org/10.1042/bj20071469 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053229028
334 rdf:type schema:CreativeWork
335 https://doi.org/10.1046/j.1440-1754.2000.00534.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1016241224
336 rdf:type schema:CreativeWork
337 https://doi.org/10.1053/j.semnuclmed.2007.02.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015961504
338 rdf:type schema:CreativeWork
339 https://doi.org/10.1093/ajcn/27.8.1174 schema:sameAs https://app.dimensions.ai/details/publication/pub.1080194978
340 rdf:type schema:CreativeWork
341 https://doi.org/10.1097/00004836-199804000-00012 schema:sameAs https://app.dimensions.ai/details/publication/pub.1060191544
342 rdf:type schema:CreativeWork
343 https://doi.org/10.1097/00005176-199304000-00006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002804554
344 rdf:type schema:CreativeWork
345 https://doi.org/10.1097/00041433-200404000-00012 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019458943
346 rdf:type schema:CreativeWork
347 https://doi.org/10.1097/meg.0b013e3282ffd9f8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017271141
348 rdf:type schema:CreativeWork
349 https://doi.org/10.1097/mpg.0b013e318183188f schema:sameAs https://app.dimensions.ai/details/publication/pub.1009361929
350 rdf:type schema:CreativeWork
351 https://doi.org/10.1111/j.1365-2362.1995.tb01559.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1005451759
352 rdf:type schema:CreativeWork
353 https://doi.org/10.1111/j.1365-2710.2009.01027.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1025788755
354 rdf:type schema:CreativeWork
355 https://doi.org/10.1111/j.1399-0004.2008.01069.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1047914121
356 rdf:type schema:CreativeWork
357 https://doi.org/10.1111/j.1651-2227.1978.tb16264.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1044103930
358 rdf:type schema:CreativeWork
359 https://doi.org/10.1126/science.1439810 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062482260
360 rdf:type schema:CreativeWork
361 https://doi.org/10.1136/gut.20.2.163 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053281106
362 rdf:type schema:CreativeWork
363 https://doi.org/10.1146/annurev-physiol-021909-135801 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044871917
364 rdf:type schema:CreativeWork
365 https://doi.org/10.1146/annurev.nutr.20.1.663 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036265334
366 rdf:type schema:CreativeWork
367 https://doi.org/10.1161/01.atv.19.10.2494 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043691181
368 rdf:type schema:CreativeWork
369 https://doi.org/10.1161/01.cir.98.1.13 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045598913
370 rdf:type schema:CreativeWork
371 https://doi.org/10.1172/jci110173 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032762067
372 rdf:type schema:CreativeWork
373 https://doi.org/10.1172/jci112590 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051241724
374 rdf:type schema:CreativeWork
375 https://doi.org/10.1172/jci114996 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031047657
376 rdf:type schema:CreativeWork
377 https://doi.org/10.1172/jci1785 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011892851
378 rdf:type schema:CreativeWork
379 https://doi.org/10.1212/wnl.30.12.1286 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064363312
380 rdf:type schema:CreativeWork
381 https://doi.org/10.1212/wnl.43.11.2167 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064371157
382 rdf:type schema:CreativeWork
383 https://doi.org/10.1212/wnl.50.6.1900 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064376353
384 rdf:type schema:CreativeWork
385 https://doi.org/10.1242/jcs.00215 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007965653
386 rdf:type schema:CreativeWork
387 https://doi.org/10.1242/jcs.02803 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014520638
388 rdf:type schema:CreativeWork
389 https://doi.org/10.5694/j.1326-5377.1961.tb69860.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1076072023
390 rdf:type schema:CreativeWork
391 https://www.grid.ac/institutes/grid.14848.31 schema:alternateName University of Montreal
392 schema:name Department of Nutrition, CHU Sainte-Justine Research Center, Université de Montréal, 3175, Ste-Catherine Road, H3T 1C5, Montreal, Quebec, Canada
393 Department of Pediatrics, CHU Sainte-Justine Research Center, Université de Montréal, 3175, Ste-Catherine Road, H3T 1C5, Montreal, Quebec, Canada
394 rdf:type schema:Organization
395 https://www.grid.ac/institutes/grid.413852.9 schema:alternateName Hospices Civils de Lyon
396 schema:name Hospices Civils de Lyon, Université Lyon 1; UMR 870, INSERM 8-870, INRA U-1235, F-69002, Lyon, France
397 UF Dyslipidemia Laboratory, Centre de Biologie Est, Biochemistry Laboratory, and Department of Endocrinology, Hôpital Neurologique et Cardiologique, Hospices Civils de Lyon, F-69003, Lyon, France
398 rdf:type schema:Organization
399 https://www.grid.ac/institutes/grid.414103.3 schema:alternateName Hôpital Femme-Mère-Enfant
400 schema:name Department of Nutrition, CHU Sainte-Justine Research Center, Université de Montréal, 3175, Ste-Catherine Road, H3T 1C5, Montreal, Quebec, Canada
401 Department of Nutrition-Hepatogastroenterology, Hôpital Femme Mère Enfant, Bron, Université Lyon 1, F-69003, Lyon, France
402 Hospices Civils de Lyon, Université Lyon 1; UMR 870, INSERM 8-870, INRA U-1235, F-69002, Lyon, France
403 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...