Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-09

AUTHORS

Matthias Zielonka, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann, Markus Ries

ABSTRACT

PURPOSE: The main purpose of the study was to provide quantitative data regarding survival and diagnostic delay. Mucopolysaccharidosis (MPS) type VII (OMIM 253220) is a progressive neurometabolic disorder caused by deficiency of the lysosomal enzyme β-glucuronidase (GUS). Hard clinical end points have not been quantitatedMethods:We quantitatively analyzed published cases with MPS VII (N = 53/88 with sufficient data). Main outcome measures were onset of disease and survival. The role of biomarkers such as GUS residual enzyme activity and levels of storage material assessed as urinary excretion of glucosaminoglycans (GAG) as potential predictors of clinical outcomes were investigated. The analysis was conducted according to STROBE criteria. RESULTS: Median survival of the postnatally diagnosed population was up to 360 months . Median age of disease onset was the first day of life; median age at diagnosis was 11 months. Hydrops fetalis was frequent. Patients with residual GUS activity in fibroblasts more than 1.4% or urinary GAG excretion less than 602% of normal survived longer than patients with GUS enzyme activity below or GAG excretion above these thresholds. CONCLUSION: MPS VII has its disease onset prenatally. In the absence of a prenatal diagnosis, most cases are clinically apparent at birth. Our data corroborate a phenotype-biomarker association in MPS VII. The survival data characterize the natural history with important implications for therapeutic studies.Genet Med advance online publication 06 April 2017. More... »

PAGES

983

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2017.10

DOI

http://dx.doi.org/10.1038/gim.2017.10

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1084537543

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28383542


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/2008/1109", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Neurosciences", 
        "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": "Age Factors", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Age of Onset", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Biomarkers", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cross-Sectional Studies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Testing", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Glucuronidase", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mucopolysaccharidosis VII", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Prenatal Diagnosis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Symptom Assessment", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zielonka", 
        "givenName": "Matthias", 
        "id": "sg:person.01132351365.35", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01132351365.35"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Garbade", 
        "givenName": "Sven F.", 
        "id": "sg:person.01365104644.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365104644.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "K\u00f6lker", 
        "givenName": "Stefan", 
        "id": "sg:person.01225553577.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225553577.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hoffmann", 
        "givenName": "Georg F.", 
        "id": "sg:person.01060154657.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01060154657.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ries", 
        "givenName": "Markus", 
        "id": "sg:person.01326626320.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01326626320.31"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1136/jmg.2004.028019", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004286417"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/b:boli.0000042959.44318.7c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005726298", 
          "https://doi.org/10.1023/b:boli.0000042959.44318.7c"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2013.56", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007137709", 
          "https://doi.org/10.1038/gim.2013.56"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajog.2014.10.007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009942252"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2012.07.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011913179"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000112332", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012710463"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymthe.2004.03.013", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020258130"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(73)80162-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025294848"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1602/neurorx.1.2.189", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025923444", 
          "https://doi.org/10.1602/neurorx.1.2.189"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2014.10.017", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029262946"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2015.02.001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032670669"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmedgenet-2015-103322", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034340944"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00219337", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035377394", 
          "https://doi.org/10.1007/bf00219337"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1038/mt.2015.189", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042376775"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/14651858.cd004434.pub4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044649702"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-015-0262-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045434597", 
          "https://doi.org/10.1186/s13023-015-0262-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-015-0262-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045434597", 
          "https://doi.org/10.1186/s13023-015-0262-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(09)61493-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045600033"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/sim.4780080407", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048284727"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.1214779109", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051055524"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2015.12", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053566774", 
          "https://doi.org/10.1038/gim.2015.12"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1089/hum.2013.141", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059273906"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1198/106186006x133933", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064199533"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1077305869", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1078993978", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2017-09", 
    "datePublishedReg": "2017-09-01", 
    "description": "PURPOSE: The main purpose of the study was to provide quantitative data regarding survival and diagnostic delay. Mucopolysaccharidosis (MPS) type VII (OMIM 253220) is a progressive neurometabolic disorder caused by deficiency of the lysosomal enzyme \u03b2-glucuronidase (GUS). Hard clinical end points have not been quantitatedMethods:We quantitatively analyzed published cases with MPS VII (N = 53/88 with sufficient data). Main outcome measures were onset of disease and survival. The role of biomarkers such as GUS residual enzyme activity and levels of storage material assessed as urinary excretion of glucosaminoglycans (GAG) as potential predictors of clinical outcomes were investigated. The analysis was conducted according to STROBE criteria.\nRESULTS: Median survival of the postnatally diagnosed population was up to 360 months . Median age of disease onset was the first day of life; median age at diagnosis was 11 months. Hydrops fetalis was frequent. Patients with residual GUS activity in fibroblasts more than 1.4% or urinary GAG excretion less than 602% of normal survived longer than patients with GUS enzyme activity below or GAG excretion above these thresholds.\nCONCLUSION: MPS VII has its disease onset prenatally. In the absence of a prenatal diagnosis, most cases are clinically apparent at birth. Our data corroborate a phenotype-biomarker association in MPS VII. The survival data characterize the natural history with important implications for therapeutic studies.Genet Med advance online publication 06 April 2017.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/gim.2017.10", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1119411", 
        "issn": [
          "1098-3600", 
          "1530-0366"
        ], 
        "name": "Genetics in Medicine", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "9", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "19"
      }
    ], 
    "name": "Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis", 
    "pagination": "983", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "9b066ab91301577ee609cfabb9a07c727548def03bdef46555c4f0b61d0d61df"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "28383542"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9815831"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/gim.2017.10"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1084537543"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/gim.2017.10", 
      "https://app.dimensions.ai/details/publication/pub.1084537543"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T22:20", 
    "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_8690_00000434.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/gim201710"
  }
]
 

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.10.1038/gim.2017.10'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/gim.2017.10'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/gim.2017.10'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/gim.2017.10'


 

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

225 TRIPLES      21 PREDICATES      66 URIs      34 LITERALS      22 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/gim.2017.10 schema:about N039a3a74c61c4878906d33a84c938c78
2 N049d42a0fa1e4e08ac96624c0ae3fab1
3 N077b087ea24c418588642155799e896f
4 N13e62a4f77d246aaa54688611917e509
5 N18dec95366d949658520e5cd1326e6ae
6 N1ed4e4cf286045b2ba7205622923fa5a
7 N390874bcbbbd45beb985f87499049788
8 N45e6856459a7455eb63dcd5d566249b2
9 N600dc52f1580497f8ea84ce5260a4f33
10 N67aaa2155dd643f9ae3d626f13953037
11 N740d7d79fab14204846546c2b113bf46
12 N8955cc0bec734e4db4e4f6c666a47cac
13 Nf017b6fad7d44923b7990c1ca29b98df
14 anzsrc-for:11
15 anzsrc-for:1109
16 schema:author N690c8afeebf64f6a8569c7f2df316356
17 schema:citation sg:pub.10.1007/bf00219337
18 sg:pub.10.1023/b:boli.0000042959.44318.7c
19 sg:pub.10.1038/gim.2013.56
20 sg:pub.10.1038/gim.2015.12
21 sg:pub.10.1186/s13023-015-0262-5
22 sg:pub.10.1602/neurorx.1.2.189
23 https://app.dimensions.ai/details/publication/pub.1077305869
24 https://app.dimensions.ai/details/publication/pub.1078993978
25 https://doi.org/10.1002/14651858.cd004434.pub4
26 https://doi.org/10.1002/sim.4780080407
27 https://doi.org/10.1016/j.ajog.2014.10.007
28 https://doi.org/10.1016/j.ymgme.2012.07.002
29 https://doi.org/10.1016/j.ymgme.2014.10.017
30 https://doi.org/10.1016/j.ymgme.2015.02.001
31 https://doi.org/10.1016/j.ymthe.2004.03.013
32 https://doi.org/10.1016/s0022-3476(73)80162-3
33 https://doi.org/10.1016/s0140-6736(09)61493-8
34 https://doi.org/10.1038/mt.2015.189
35 https://doi.org/10.1073/pnas.1214779109
36 https://doi.org/10.1089/hum.2013.141
37 https://doi.org/10.1136/jmedgenet-2015-103322
38 https://doi.org/10.1136/jmg.2004.028019
39 https://doi.org/10.1159/000112332
40 https://doi.org/10.1198/106186006x133933
41 schema:datePublished 2017-09
42 schema:datePublishedReg 2017-09-01
43 schema:description PURPOSE: The main purpose of the study was to provide quantitative data regarding survival and diagnostic delay. Mucopolysaccharidosis (MPS) type VII (OMIM 253220) is a progressive neurometabolic disorder caused by deficiency of the lysosomal enzyme β-glucuronidase (GUS). Hard clinical end points have not been quantitatedMethods:We quantitatively analyzed published cases with MPS VII (N = 53/88 with sufficient data). Main outcome measures were onset of disease and survival. The role of biomarkers such as GUS residual enzyme activity and levels of storage material assessed as urinary excretion of glucosaminoglycans (GAG) as potential predictors of clinical outcomes were investigated. The analysis was conducted according to STROBE criteria. RESULTS: Median survival of the postnatally diagnosed population was up to 360 months . Median age of disease onset was the first day of life; median age at diagnosis was 11 months. Hydrops fetalis was frequent. Patients with residual GUS activity in fibroblasts more than 1.4% or urinary GAG excretion less than 602% of normal survived longer than patients with GUS enzyme activity below or GAG excretion above these thresholds. CONCLUSION: MPS VII has its disease onset prenatally. In the absence of a prenatal diagnosis, most cases are clinically apparent at birth. Our data corroborate a phenotype-biomarker association in MPS VII. The survival data characterize the natural history with important implications for therapeutic studies.Genet Med advance online publication 06 April 2017.
44 schema:genre research_article
45 schema:inLanguage en
46 schema:isAccessibleForFree true
47 schema:isPartOf N7ec6da1725ea4e1cb46a783cd17fb848
48 Nda485aeebbaf4e2484031a6b042bfec7
49 sg:journal.1119411
50 schema:name Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis
51 schema:pagination 983
52 schema:productId N50a0216d5117430b8368f06e7f8d654d
53 N6b0c6b76701f4a1c89c7286c380e8541
54 Nc438fff452f64ebc80e1eee6559d4191
55 Nd77f2f20059e4f61b2aef8c95d4ef0b9
56 Nf8cc44fecfe44451b60942622062d606
57 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084537543
58 https://doi.org/10.1038/gim.2017.10
59 schema:sdDatePublished 2019-04-10T22:20
60 schema:sdLicense https://scigraph.springernature.com/explorer/license/
61 schema:sdPublisher N80b19a72481b4779a5c5fa8321ae602d
62 schema:url https://www.nature.com/articles/gim201710
63 sgo:license sg:explorer/license/
64 sgo:sdDataset articles
65 rdf:type schema:ScholarlyArticle
66 N039a3a74c61c4878906d33a84c938c78 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
67 schema:name Female
68 rdf:type schema:DefinedTerm
69 N049d42a0fa1e4e08ac96624c0ae3fab1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
70 schema:name Glucuronidase
71 rdf:type schema:DefinedTerm
72 N077b087ea24c418588642155799e896f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
73 schema:name Genetic Testing
74 rdf:type schema:DefinedTerm
75 N13e62a4f77d246aaa54688611917e509 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
76 schema:name Male
77 rdf:type schema:DefinedTerm
78 N18dec95366d949658520e5cd1326e6ae schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
79 schema:name Age Factors
80 rdf:type schema:DefinedTerm
81 N1ed4e4cf286045b2ba7205622923fa5a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
82 schema:name Humans
83 rdf:type schema:DefinedTerm
84 N261e6a4b5a3b473cb03c748e6071892e rdf:first sg:person.01225553577.58
85 rdf:rest N38f8eaf9968447ca926729c6de2ae247
86 N38f8eaf9968447ca926729c6de2ae247 rdf:first sg:person.01060154657.48
87 rdf:rest Nd06a7a941d2446fda19acfa29e0d557c
88 N390874bcbbbd45beb985f87499049788 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
89 schema:name Age of Onset
90 rdf:type schema:DefinedTerm
91 N45e6856459a7455eb63dcd5d566249b2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
92 schema:name Biomarkers
93 rdf:type schema:DefinedTerm
94 N50a0216d5117430b8368f06e7f8d654d schema:name dimensions_id
95 schema:value pub.1084537543
96 rdf:type schema:PropertyValue
97 N600dc52f1580497f8ea84ce5260a4f33 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
98 schema:name Mucopolysaccharidosis VII
99 rdf:type schema:DefinedTerm
100 N67aaa2155dd643f9ae3d626f13953037 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
101 schema:name Symptom Assessment
102 rdf:type schema:DefinedTerm
103 N690c8afeebf64f6a8569c7f2df316356 rdf:first sg:person.01132351365.35
104 rdf:rest Nbc36d9da715c49b6a3bf61a4149d40b0
105 N6b0c6b76701f4a1c89c7286c380e8541 schema:name readcube_id
106 schema:value 9b066ab91301577ee609cfabb9a07c727548def03bdef46555c4f0b61d0d61df
107 rdf:type schema:PropertyValue
108 N740d7d79fab14204846546c2b113bf46 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
109 schema:name Phenotype
110 rdf:type schema:DefinedTerm
111 N7ec6da1725ea4e1cb46a783cd17fb848 schema:volumeNumber 19
112 rdf:type schema:PublicationVolume
113 N80b19a72481b4779a5c5fa8321ae602d schema:name Springer Nature - SN SciGraph project
114 rdf:type schema:Organization
115 N8955cc0bec734e4db4e4f6c666a47cac schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
116 schema:name Prenatal Diagnosis
117 rdf:type schema:DefinedTerm
118 Nbc36d9da715c49b6a3bf61a4149d40b0 rdf:first sg:person.01365104644.55
119 rdf:rest N261e6a4b5a3b473cb03c748e6071892e
120 Nc438fff452f64ebc80e1eee6559d4191 schema:name doi
121 schema:value 10.1038/gim.2017.10
122 rdf:type schema:PropertyValue
123 Nd06a7a941d2446fda19acfa29e0d557c rdf:first sg:person.01326626320.31
124 rdf:rest rdf:nil
125 Nd77f2f20059e4f61b2aef8c95d4ef0b9 schema:name pubmed_id
126 schema:value 28383542
127 rdf:type schema:PropertyValue
128 Nda485aeebbaf4e2484031a6b042bfec7 schema:issueNumber 9
129 rdf:type schema:PublicationIssue
130 Nf017b6fad7d44923b7990c1ca29b98df schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
131 schema:name Cross-Sectional Studies
132 rdf:type schema:DefinedTerm
133 Nf8cc44fecfe44451b60942622062d606 schema:name nlm_unique_id
134 schema:value 9815831
135 rdf:type schema:PropertyValue
136 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
137 schema:name Medical and Health Sciences
138 rdf:type schema:DefinedTerm
139 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
140 schema:name Neurosciences
141 rdf:type schema:DefinedTerm
142 sg:journal.1119411 schema:issn 1098-3600
143 1530-0366
144 schema:name Genetics in Medicine
145 rdf:type schema:Periodical
146 sg:person.01060154657.48 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
147 schema:familyName Hoffmann
148 schema:givenName Georg F.
149 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01060154657.48
150 rdf:type schema:Person
151 sg:person.01132351365.35 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
152 schema:familyName Zielonka
153 schema:givenName Matthias
154 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01132351365.35
155 rdf:type schema:Person
156 sg:person.01225553577.58 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
157 schema:familyName Kölker
158 schema:givenName Stefan
159 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225553577.58
160 rdf:type schema:Person
161 sg:person.01326626320.31 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
162 schema:familyName Ries
163 schema:givenName Markus
164 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01326626320.31
165 rdf:type schema:Person
166 sg:person.01365104644.55 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
167 schema:familyName Garbade
168 schema:givenName Sven F.
169 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365104644.55
170 rdf:type schema:Person
171 sg:pub.10.1007/bf00219337 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035377394
172 https://doi.org/10.1007/bf00219337
173 rdf:type schema:CreativeWork
174 sg:pub.10.1023/b:boli.0000042959.44318.7c schema:sameAs https://app.dimensions.ai/details/publication/pub.1005726298
175 https://doi.org/10.1023/b:boli.0000042959.44318.7c
176 rdf:type schema:CreativeWork
177 sg:pub.10.1038/gim.2013.56 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007137709
178 https://doi.org/10.1038/gim.2013.56
179 rdf:type schema:CreativeWork
180 sg:pub.10.1038/gim.2015.12 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053566774
181 https://doi.org/10.1038/gim.2015.12
182 rdf:type schema:CreativeWork
183 sg:pub.10.1186/s13023-015-0262-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045434597
184 https://doi.org/10.1186/s13023-015-0262-5
185 rdf:type schema:CreativeWork
186 sg:pub.10.1602/neurorx.1.2.189 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025923444
187 https://doi.org/10.1602/neurorx.1.2.189
188 rdf:type schema:CreativeWork
189 https://app.dimensions.ai/details/publication/pub.1077305869 schema:CreativeWork
190 https://app.dimensions.ai/details/publication/pub.1078993978 schema:CreativeWork
191 https://doi.org/10.1002/14651858.cd004434.pub4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044649702
192 rdf:type schema:CreativeWork
193 https://doi.org/10.1002/sim.4780080407 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048284727
194 rdf:type schema:CreativeWork
195 https://doi.org/10.1016/j.ajog.2014.10.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009942252
196 rdf:type schema:CreativeWork
197 https://doi.org/10.1016/j.ymgme.2012.07.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011913179
198 rdf:type schema:CreativeWork
199 https://doi.org/10.1016/j.ymgme.2014.10.017 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029262946
200 rdf:type schema:CreativeWork
201 https://doi.org/10.1016/j.ymgme.2015.02.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032670669
202 rdf:type schema:CreativeWork
203 https://doi.org/10.1016/j.ymthe.2004.03.013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020258130
204 rdf:type schema:CreativeWork
205 https://doi.org/10.1016/s0022-3476(73)80162-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025294848
206 rdf:type schema:CreativeWork
207 https://doi.org/10.1016/s0140-6736(09)61493-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045600033
208 rdf:type schema:CreativeWork
209 https://doi.org/10.1038/mt.2015.189 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042376775
210 rdf:type schema:CreativeWork
211 https://doi.org/10.1073/pnas.1214779109 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051055524
212 rdf:type schema:CreativeWork
213 https://doi.org/10.1089/hum.2013.141 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059273906
214 rdf:type schema:CreativeWork
215 https://doi.org/10.1136/jmedgenet-2015-103322 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034340944
216 rdf:type schema:CreativeWork
217 https://doi.org/10.1136/jmg.2004.028019 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004286417
218 rdf:type schema:CreativeWork
219 https://doi.org/10.1159/000112332 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012710463
220 rdf:type schema:CreativeWork
221 https://doi.org/10.1198/106186006x133933 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064199533
222 rdf:type schema:CreativeWork
223 https://www.grid.ac/institutes/grid.5253.1 schema:alternateName University Hospital Heidelberg
224 schema:name Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
225 rdf:type schema:Organization
 




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


...