Ontology type: schema:ScholarlyArticle
1991-03
AUTHORS ABSTRACTTetrahydrobiopterin deficiency in hyperphenylalaninaemic babies has to be rapidly recognized since the disease requires a specific treatment. Based on 15 years experience, we report on the evolution of a strategy for the detection of such patients. A total of 913 hyperphenylalaninaemic patients have been studied and 15 tetrahydrobiopterin deficiencies have been detected or confirmed. DHPR assay in dried blood samples and pteridine measurement in urine collected on filter paper combine convenient sampling and reliable tests for systematic investigation of hyperphenylalaninaemic patients for cofactor deficiency. More... »
PAGES117-127
http://scigraph.springernature.com/pub.10.1007/bf01800581
DOIhttp://dx.doi.org/10.1007/bf01800581
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1012930653
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/1886401
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": "Belgium",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Biopterin",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Czechoslovakia",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Diagnosis, Differential",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Dihydropteridine Reductase",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "France",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Infant, Newborn",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Liver",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Neonatal Screening",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Phenylalanine",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Phenylalanine Hydroxylase",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Phenylketonurias",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Portugal",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Prospective Studies",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Pteridines",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Retrospective Studies",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"name": [
"Laboratoire de Biochimie, Facult\u00e9 Libre de M\u00e9decine, 56 rue du Port, 59046, Lille c\u00e9dex, France"
],
"type": "Organization"
},
"familyName": "Dhondt",
"givenName": "J. -L.",
"id": "sg:person.0100226714.64",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0100226714.64"
],
"type": "Person"
}
],
"citation": [
{
"id": "https://doi.org/10.1016/0009-8981(81)90349-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1001940699"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0009-8981(81)90349-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1001940699"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1203/00006450-198902000-00013",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002769645",
"https://doi.org/10.1203/00006450-198902000-00013"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf01799707",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004475671",
"https://doi.org/10.1007/bf01799707"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1007/bf01799707",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004475671"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0009-8981(79)90097-4",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1014971682"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0009-8981(79)90097-4",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1014971682"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0022-3476(83)80589-7",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015260390"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/adc.49.3.245-b",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015457612"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf01811477",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020487773",
"https://doi.org/10.1007/bf01811477"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1007/bf01811477",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020487773"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf01799682",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022025747",
"https://doi.org/10.1007/bf01799682"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1007/bf01799682",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022025747"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf01799719",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022585892",
"https://doi.org/10.1007/bf01799719"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1007/bf01799719",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022585892"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0022-3476(84)80104-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1031428092"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00716465",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1034309813",
"https://doi.org/10.1007/bf00716465"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00442213",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1036211457",
"https://doi.org/10.1007/bf00442213"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00442213",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1036211457",
"https://doi.org/10.1007/bf00442213"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0140-6736(74)90337-7",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1036647470"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0022-3476(80)80556-7",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040644780"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0022-3476(84)80551-x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1042215621"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf01800494",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1042594029",
"https://doi.org/10.1007/bf01800494"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1007/bf01800494",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1042594029"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0022-3476(84)80537-5",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043469846"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00445941",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1048209075",
"https://doi.org/10.1007/bf00445941"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00445941",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1048209075",
"https://doi.org/10.1007/bf00445941"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf01800213",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049060978",
"https://doi.org/10.1007/bf01800213"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1007/bf01800213",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049060978"
],
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1079183926",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1079974507",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1082009730",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1082156083",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1082281312",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1082313371",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1082313379",
"type": "CreativeWork"
}
],
"datePublished": "1991-03",
"datePublishedReg": "1991-03-01",
"description": "Tetrahydrobiopterin deficiency in hyperphenylalaninaemic babies has to be rapidly recognized since the disease requires a specific treatment. Based on 15 years experience, we report on the evolution of a strategy for the detection of such patients. A total of 913 hyperphenylalaninaemic patients have been studied and 15 tetrahydrobiopterin deficiencies have been detected or confirmed. DHPR assay in dried blood samples and pteridine measurement in urine collected on filter paper combine convenient sampling and reliable tests for systematic investigation of hyperphenylalaninaemic patients for cofactor deficiency.",
"genre": "research_article",
"id": "sg:pub.10.1007/bf01800581",
"inLanguage": [
"en"
],
"isAccessibleForFree": false,
"isPartOf": [
{
"id": "sg:journal.1090550",
"issn": [
"0141-8955",
"1573-2665"
],
"name": "Journal of Inherited Metabolic Disease",
"type": "Periodical"
},
{
"issueNumber": "2",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "14"
}
],
"name": "Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-Years experience",
"pagination": "117-127",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"3d9a2f8bfafdb1099ec7ddda566e3db689c79883eab6880a614605b280d80318"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"1886401"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"7910918"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/bf01800581"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1012930653"
]
}
],
"sameAs": [
"https://doi.org/10.1007/bf01800581",
"https://app.dimensions.ai/details/publication/pub.1012930653"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-10T14:54",
"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_8663_00000487.jsonl",
"type": "ScholarlyArticle",
"url": "http://link.springer.com/10.1007/BF01800581"
}
]
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/bf01800581'
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/bf01800581'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/bf01800581'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/bf01800581'
This table displays all metadata directly associated to this object as RDF triples.
235 TRIPLES
21 PREDICATES
78 URIs
38 LITERALS
26 BLANK NODES