1983-12
AUTHORSJ. L. Dhondt, B. Leroux, J. P. Farriaux, C. Largilliere, R. J. Leeming
ABSTRACTFor the last 2 years, a program has been developed to screen all hyperphenylalaninemic babies for tetrahydrobiopterin deficiency, by measurement of pterins in urine. High neopterin and low biopterin levels were found in the urine of a 1-month-old girl. Further investigations confirmed an impaired conversion of neopterin to biopterin. No neurological signs were noted, but, in regard to the laboratory data, neurotransmitter replacement therapy was instituted at 2.5 months of age. The most remarkable feature was a rapid increase in the dietetic phenylalanine tolerance, despite the proof that the child was not able to clear a challenging dose of phenylalanine and the record of unchanged pathologically low excretion of biopterin during a 2 month period. More... »
PAGES92-95
http://scigraph.springernature.com/pub.10.1007/bf00496797
DOIhttp://dx.doi.org/10.1007/bf00496797
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1044656592
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/6662148
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": "Biopterin",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"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": "Infant, Newborn",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Metabolism, Inborn Errors",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Neopterin",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Phenylalanine",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Pteridines",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Universit\u00e9 Catholique de Lille",
"id": "https://www.grid.ac/institutes/grid.417666.4",
"name": [
"Laboratoire de Biochimie, Facult\u00e9 Libre de M\u00e9decine, Lille, France",
"Service de G\u00e9n\u00e9tique et Maladies H\u00e9r\u00e9ditaires, du M\u00e9tabolisme de l'Enfant, Cit\u00e9 Hospitali\u00e8re, 59037, 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"
},
{
"affiliation": {
"name": [
"Service de P\u00e9diatrie, Centre Hospitalier R\u00e9gional, Reims, France"
],
"type": "Organization"
},
"familyName": "Leroux",
"givenName": "B.",
"type": "Person"
},
{
"affiliation": {
"name": [
"Service de G\u00e9n\u00e9tique et Maladies H\u00e9r\u00e9ditaires, du M\u00e9tabolisme de l'Enfant, Cit\u00e9 Hospitali\u00e8re, 59037, Lille C\u00e9dex, France"
],
"type": "Organization"
},
"familyName": "Farriaux",
"givenName": "J. P.",
"id": "sg:person.07577127264.28",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07577127264.28"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Service de G\u00e9n\u00e9tique et Maladies H\u00e9r\u00e9ditaires, du M\u00e9tabolisme de l'Enfant, Cit\u00e9 Hospitali\u00e8re, 59037, Lille C\u00e9dex, France"
],
"type": "Organization"
},
"familyName": "Largilliere",
"givenName": "C.",
"id": "sg:person.0751506577.78",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0751506577.78"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Birmingham General Hospital",
"id": "https://www.grid.ac/institutes/grid.415359.f",
"name": [
"Haematology Depprtment, The General Hospital, Birmingham, England"
],
"type": "Organization"
},
"familyName": "Leeming",
"givenName": "R. J.",
"id": "sg:person.0764524075.10",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0764524075.10"
],
"type": "Person"
}
],
"citation": [
{
"id": "https://doi.org/10.1002/ana.410030307",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1001223580"
],
"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": "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(82)90207-8",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006496509"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0009-8981(82)90207-8",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006496509"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1056/nejm197809282991301",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011501182"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0009-8981(81)90017-6",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1013351022"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0009-8981(81)90017-6",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1013351022"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/adc.55.8.637",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1014128240"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1203/00006450-197512000-00006",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1017186949",
"https://doi.org/10.1203/00006450-197512000-00006"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1432-1033.1969.tb00636.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024396130"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00442994",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1034724338",
"https://doi.org/10.1007/bf00442994"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00442994",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1034724338",
"https://doi.org/10.1007/bf00442994"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/adc.53.8.674",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1038267405"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00442368",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039660020",
"https://doi.org/10.1007/bf00442368"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00442368",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039660020",
"https://doi.org/10.1007/bf00442368"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1365-2788.1981.tb00113.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040296307"
],
"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": "sg:pub.10.1007/bf00441135",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041490304",
"https://doi.org/10.1007/bf00441135"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00441135",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041490304",
"https://doi.org/10.1007/bf00441135"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/adc.51.10.771",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043419711"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf01801843",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1045311890",
"https://doi.org/10.1007/bf01801843"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1007/bf01801843",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1045311890"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0140-6736(79)90521-x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1050048572"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0140-6736(79)90521-x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1050048572"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1203/00006450-197910000-00014",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1052982330",
"https://doi.org/10.1203/00006450-197910000-00014"
],
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1079504987",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1081652524",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1082095401",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1082313371",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1082313378",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1082313379",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1082313380",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1083154195",
"type": "CreativeWork"
}
],
"datePublished": "1983-12",
"datePublishedReg": "1983-12-01",
"description": "For the last 2 years, a program has been developed to screen all hyperphenylalaninemic babies for tetrahydrobiopterin deficiency, by measurement of pterins in urine. High neopterin and low biopterin levels were found in the urine of a 1-month-old girl. Further investigations confirmed an impaired conversion of neopterin to biopterin. No neurological signs were noted, but, in regard to the laboratory data, neurotransmitter replacement therapy was instituted at 2.5 months of age. The most remarkable feature was a rapid increase in the dietetic phenylalanine tolerance, despite the proof that the child was not able to clear a challenging dose of phenylalanine and the record of unchanged pathologically low excretion of biopterin during a 2 month period.",
"genre": "research_article",
"id": "sg:pub.10.1007/bf00496797",
"inLanguage": [
"en"
],
"isAccessibleForFree": false,
"isPartOf": [
{
"id": "sg:journal.1017354",
"issn": [
"0340-6199",
"1432-1076"
],
"name": "European Journal of Pediatrics",
"type": "Periodical"
},
{
"issueNumber": "2",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "141"
}
],
"name": "Dihydrobiopterin biosynthesis deficiency",
"pagination": "92-95",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"d4b7670825576267fd2fbdcb7a66884c48b714c8354f1b75efb8143bbc290022"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"6662148"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"7603873"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/bf00496797"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1044656592"
]
}
],
"sameAs": [
"https://doi.org/10.1007/bf00496797",
"https://app.dimensions.ai/details/publication/pub.1044656592"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-11T14:01",
"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/v90/0000000371_0000000371/records_130829_00000004.jsonl",
"type": "ScholarlyArticle",
"url": "http://link.springer.com/10.1007/BF00496797"
}
]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/bf00496797'
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/bf00496797'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/bf00496797'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/bf00496797'
This table displays all metadata directly associated to this object as RDF triples.
221 TRIPLES
21 PREDICATES
65 URIs
30 LITERALS
18 BLANK NODES