2010-12
AUTHORSN. Garcia Segarra, S. Roche, A. Imbard, J. F. Benoist, M. O. Grenèche, A. Davit-Spraul, H. Ogier de Baulny
ABSTRACTA 22 year-old woman with tyrosinemia type I (HT1) married her first cousin who is heterozygous for the same FAH mutation for which the patient is homozygous. During her pregnancy she was treated with diet (prescribed tyrosine intake 300 mg/day), and nitisinone (60 mg/day). Median plasma tyrosine levels were 560 μmol/L (range: 375-838, n = 21) and nitisinone 51 μmol/L (range: 41-57, n = 3) during pregnancy. She gave birth to a clinically healthy girl affected with tyrosinemia type 1. Birth was normal (birth weight 2615 g) and the baby had normal liver function, normal plasma alpha-fetoprotein concentrations, low urinary excretion of phenolic acids and no detectable succinylacetone. At birth, the baby had hypertyrosinemia (860 μmol/L in blood cord) and nitisinone levels of 14 μmol/L. Following molecular confirmation of the diagnosis of HT1 specific treatment began on day 15 by which time she had detectable urinary succinylacetone. More... »
PAGES507-510
http://scigraph.springernature.com/pub.10.1007/s10545-012-9569-8
DOIhttp://dx.doi.org/10.1007/s10545-012-9569-8
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1028306490
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/23250512
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/2008/1114",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Paediatrics and Reproductive Medicine",
"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": "Biomarkers",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Child Development",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Consanguinity",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Cyclohexanones",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "DNA Mutational Analysis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Diet, Protein-Restricted",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Predisposition to Disease",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Heptanoates",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Heredity",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Heterozygote",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Homozygote",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Hydrolases",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Infant",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Infant, Newborn",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Live Birth",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Mutation",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Nitrobenzoates",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Pedigree",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Phenotype",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Pregnancy",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Tyrosine",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Tyrosinemias",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Young Adult",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "H\u00f4pital Robert Debr\u00e9",
"id": "https://www.grid.ac/institutes/grid.413235.2",
"name": [
"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Robert Debr\u00e9, APHP, 48 Boulevard S\u00e9rurier, 75019, Paris, France"
],
"type": "Organization"
},
"familyName": "Garcia Segarra",
"givenName": "N.",
"id": "sg:person.011761222011.25",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011761222011.25"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "H\u00f4pital Robert Debr\u00e9",
"id": "https://www.grid.ac/institutes/grid.413235.2",
"name": [
"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Robert Debr\u00e9, APHP, 48 Boulevard S\u00e9rurier, 75019, Paris, France"
],
"type": "Organization"
},
"familyName": "Roche",
"givenName": "S.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "H\u00f4pital Robert Debr\u00e9",
"id": "https://www.grid.ac/institutes/grid.413235.2",
"name": [
"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Robert Debr\u00e9, APHP, 48 Boulevard S\u00e9rurier, 75019, Paris, France",
"Biochemistry, H\u00f4pital Robert Debr\u00e9, APHP, Paris, France"
],
"type": "Organization"
},
"familyName": "Imbard",
"givenName": "A.",
"id": "sg:person.0741203366.77",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0741203366.77"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "H\u00f4pital Robert Debr\u00e9",
"id": "https://www.grid.ac/institutes/grid.413235.2",
"name": [
"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Robert Debr\u00e9, APHP, 48 Boulevard S\u00e9rurier, 75019, Paris, France",
"Biochemistry, H\u00f4pital Robert Debr\u00e9, APHP, Paris, France"
],
"type": "Organization"
},
"familyName": "Benoist",
"givenName": "J. F.",
"id": "sg:person.0673622355.39",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673622355.39"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "H\u00f4pital Robert Debr\u00e9",
"id": "https://www.grid.ac/institutes/grid.413235.2",
"name": [
"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Robert Debr\u00e9, APHP, 48 Boulevard S\u00e9rurier, 75019, Paris, France"
],
"type": "Organization"
},
"familyName": "Gren\u00e8che",
"givenName": "M. O.",
"id": "sg:person.012565031120.14",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012565031120.14"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Assistance Publique -Hopitaux De Paris",
"id": "https://www.grid.ac/institutes/grid.50550.35",
"name": [
"Biochemistry, CHU Bic\u00eatre, APHP, Paris, France"
],
"type": "Organization"
},
"familyName": "Davit-Spraul",
"givenName": "A.",
"id": "sg:person.0750522771.34",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0750522771.34"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "H\u00f4pital Robert Debr\u00e9",
"id": "https://www.grid.ac/institutes/grid.413235.2",
"name": [
"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Robert Debr\u00e9, APHP, 48 Boulevard S\u00e9rurier, 75019, Paris, France"
],
"type": "Organization"
},
"familyName": "Ogier de Baulny",
"givenName": "H.",
"id": "sg:person.0724754007.46",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0724754007.46"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1023/a:1005458703363",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011131055",
"https://doi.org/10.1023/a:1005458703363"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1023/a:1016558510123",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1013699091",
"https://doi.org/10.1023/a:1016558510123"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/8904_2011_88",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1021627171",
"https://doi.org/10.1007/8904_2011_88"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf01954383",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1021993977",
"https://doi.org/10.1007/bf01954383"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf01954383",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1021993977",
"https://doi.org/10.1007/bf01954383"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1023/a:1005410820201",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027020476",
"https://doi.org/10.1023/a:1005410820201"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/978-3-642-15720-2_18",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1037953007",
"https://doi.org/10.1007/978-3-642-15720-2_18"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00431-009-1074-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1045622701",
"https://doi.org/10.1007/s00431-009-1074-1"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00431-009-1074-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1045622701",
"https://doi.org/10.1007/s00431-009-1074-1"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00431-009-1074-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1045622701",
"https://doi.org/10.1007/s00431-009-1074-1"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf01819292",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047870424",
"https://doi.org/10.1007/bf01819292"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1007/bf01819292",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047870424"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0140-6736(92)92685-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049047459"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0140-6736(92)92685-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049047459"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1056/nejm198305263082105",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1052741371"
],
"type": "CreativeWork"
}
],
"datePublished": "2010-12",
"datePublishedReg": "2010-12-01",
"description": "A 22 year-old woman with tyrosinemia type I (HT1) married her first cousin who is heterozygous for the same FAH mutation for which the patient is homozygous. During her pregnancy she was treated with diet (prescribed tyrosine intake 300 mg/day), and nitisinone (60 mg/day). Median plasma tyrosine levels were 560 \u03bcmol/L (range: 375-838, n = 21) and nitisinone 51 \u03bcmol/L (range: 41-57, n = 3) during pregnancy. She gave birth to a clinically healthy girl affected with tyrosinemia type 1. Birth was normal (birth weight 2615 g) and the baby had normal liver function, normal plasma alpha-fetoprotein concentrations, low urinary excretion of phenolic acids and no detectable succinylacetone. At birth, the baby had hypertyrosinemia (860 \u03bcmol/L in blood cord) and nitisinone levels of 14 \u03bcmol/L. Following molecular confirmation of the diagnosis of HT1 specific treatment began on day 15 by which time she had detectable urinary succinylacetone.",
"genre": "research_article",
"id": "sg:pub.10.1007/s10545-012-9569-8",
"inLanguage": [
"en"
],
"isAccessibleForFree": false,
"isPartOf": [
{
"id": "sg:journal.1090550",
"issn": [
"0141-8955",
"1573-2665"
],
"name": "Journal of Inherited Metabolic Disease",
"type": "Periodical"
},
{
"issueNumber": "Suppl 3",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "33"
}
],
"name": "Maternal and fetal tyrosinemia type I",
"pagination": "507-510",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"86d8a2dd6337de65e22e53f3cc9ecfad34ee6703ef1e52ea64737a8ca3c11fd7"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"23250512"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"7910918"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/s10545-012-9569-8"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1028306490"
]
}
],
"sameAs": [
"https://doi.org/10.1007/s10545-012-9569-8",
"https://app.dimensions.ai/details/publication/pub.1028306490"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-10T23:17",
"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_8693_00000481.jsonl",
"type": "ScholarlyArticle",
"url": "http://link.springer.com/10.1007/s10545-012-9569-8"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
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.10.1007/s10545-012-9569-8'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s10545-012-9569-8'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10545-012-9569-8'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10545-012-9569-8'
This table displays all metadata directly associated to this object as RDF triples.
255 TRIPLES
21 PREDICATES
65 URIs
46 LITERALS
34 BLANK NODES