Ontology type: schema:ScholarlyArticle
1988-02
AUTHORSJ. L. Dhondt, P. Guibaud, M. O. Rolland, C. Dorche, S. Andre, G. Forzy, J. M. Hayte
ABSTRACTSystematic investigation of hyperphenylalaninaemic infants for tetrahydrobiopterin deficiency has recently led to the description of new variants of cofactor deficiency. In the present case, the initial observation was of hyperphenylalaninaemia with a significant increase in the neopterin to biopterin ratio in the urine. A tetrahydrobiopterin loading test resulted in a significant decrease of blood phenylalanine levels. Cerebrospinal fluid (CSF) biopterin and neurotransmitter metabolite levels were within the normal range. The in vivo clearance of phenylalanine remained altered despite a high dietary tolerance. At 9 months of age, the patient was clinically well, but minor neurological signs appeared when blood phenylalanine levels increased. These data were similar to those found in the so-called "peripheral form" of tetrahydrobiopterin deficiency. However, an unidentified pteridine-like compound had been found in the urine and CSF since the birth, suggesting the existence of an unknown block in the biosynthetic pathway of biopterin. More... »
PAGES153-157
http://scigraph.springernature.com/pub.10.1007/bf00442213
DOIhttp://dx.doi.org/10.1007/bf00442213
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1036211457
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/3366132
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": "Biogenic Amines",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Biopterin",
"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": "Male",
"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"
}
],
"author": [
{
"affiliation": {
"name": [
"Laboratoire de Biochimie, Facult\u00e9 Libre de M\u00e9decine, 56 rue du Port, F-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"
},
{
"affiliation": {
"alternateName": "H\u00f4pital Debrousse",
"id": "https://www.grid.ac/institutes/grid.413959.3",
"name": [
"Centre d'Etude des Maladies M\u00e9taboliques, H\u00f4pital Debrousse, Lyon, France"
],
"type": "Organization"
},
"familyName": "Guibaud",
"givenName": "P.",
"id": "sg:person.012721613754.43",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012721613754.43"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "H\u00f4pital Debrousse",
"id": "https://www.grid.ac/institutes/grid.413959.3",
"name": [
"Centre d'Etude des Maladies M\u00e9taboliques, H\u00f4pital Debrousse, Lyon, France"
],
"type": "Organization"
},
"familyName": "Rolland",
"givenName": "M. O.",
"id": "sg:person.01322234564.36",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322234564.36"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "H\u00f4pital Debrousse",
"id": "https://www.grid.ac/institutes/grid.413959.3",
"name": [
"Centre d'Etude des Maladies M\u00e9taboliques, H\u00f4pital Debrousse, Lyon, France"
],
"type": "Organization"
},
"familyName": "Dorche",
"givenName": "C.",
"id": "sg:person.01151622511.39",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01151622511.39"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "H\u00f4pital Debrousse",
"id": "https://www.grid.ac/institutes/grid.413959.3",
"name": [
"Centre d'Etude des Maladies M\u00e9taboliques, H\u00f4pital Debrousse, Lyon, France"
],
"type": "Organization"
},
"familyName": "Andre",
"givenName": "S.",
"id": "sg:person.01233000515.19",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01233000515.19"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Laboratoire de Biochimie, Facult\u00e9 Libre de M\u00e9decine, 56 rue du Port, F-59046, Lille C\u00e9dex, France"
],
"type": "Organization"
},
"familyName": "Forzy",
"givenName": "G.",
"id": "sg:person.01056467022.34",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01056467022.34"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Laboratoire de Biochimie, Facult\u00e9 Libre de M\u00e9decine, 56 rue du Port, F-59046, Lille C\u00e9dex, France"
],
"type": "Organization"
},
"familyName": "Hayte",
"givenName": "J. M.",
"id": "sg:person.01313705341.47",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313705341.47"
],
"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.10.1007/bf01819290",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1010133708",
"https://doi.org/10.1007/bf01819290"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1007/bf01819290",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1010133708"
],
"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": "sg:pub.10.1203/00006450-198203000-00006",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1014026365",
"https://doi.org/10.1203/00006450-198203000-00006"
],
"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": "https://doi.org/10.1111/j.1442-200x.1984.tb01863.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1017076299"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0006-291x(86)80468-5",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1019013587"
],
"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(85)80160-8",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039862025"
],
"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": "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/bf00491917",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043670175",
"https://doi.org/10.1007/bf00491917"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00491917",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043670175",
"https://doi.org/10.1007/bf00491917"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00496797",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044656592",
"https://doi.org/10.1007/bf00496797"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00496797",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044656592",
"https://doi.org/10.1007/bf00496797"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ana.410080106",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1051817148"
],
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1081590541",
"type": "CreativeWork"
}
],
"datePublished": "1988-02",
"datePublishedReg": "1988-02-01",
"description": "Systematic investigation of hyperphenylalaninaemic infants for tetrahydrobiopterin deficiency has recently led to the description of new variants of cofactor deficiency. In the present case, the initial observation was of hyperphenylalaninaemia with a significant increase in the neopterin to biopterin ratio in the urine. A tetrahydrobiopterin loading test resulted in a significant decrease of blood phenylalanine levels. Cerebrospinal fluid (CSF) biopterin and neurotransmitter metabolite levels were within the normal range. The in vivo clearance of phenylalanine remained altered despite a high dietary tolerance. At 9 months of age, the patient was clinically well, but minor neurological signs appeared when blood phenylalanine levels increased. These data were similar to those found in the so-called \"peripheral form\" of tetrahydrobiopterin deficiency. However, an unidentified pteridine-like compound had been found in the urine and CSF since the birth, suggesting the existence of an unknown block in the biosynthetic pathway of biopterin.",
"genre": "research_article",
"id": "sg:pub.10.1007/bf00442213",
"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": "147"
}
],
"name": "Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency",
"pagination": "153-157",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"ac7ed79980353c4bf2557f328a7f909440508ba66be57c43bce06e95eb1b2dc7"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"3366132"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"7603873"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/bf00442213"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1036211457"
]
}
],
"sameAs": [
"https://doi.org/10.1007/bf00442213",
"https://app.dimensions.ai/details/publication/pub.1036211457"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-11T13:55",
"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_130814_00000003.jsonl",
"type": "ScholarlyArticle",
"url": "http://link.springer.com/10.1007/BF00442213"
}
]
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/bf00442213'
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/bf00442213'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/bf00442213'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/bf00442213'
This table displays all metadata directly associated to this object as RDF triples.
200 TRIPLES
21 PREDICATES
53 URIs
29 LITERALS
17 BLANK NODES