Ontology type: schema:ScholarlyArticle
1983-06
AUTHORSJ. Oizumi, K. N. F. Shaw, T. A. Giudici, M. Carter, G. N. Donnell, W. G. Ng
ABSTRACTThis report concerns a patient with severe congenital lacticacidosis associated with proximal renal tubular acidosis and cystinuria. Enzyme studies with cultured skin fibroblasts obtained from the patient revealed zero pyruvate carboxylase activity, but propionyl-CoA carboxylase activity was normal. Administration of various vitamins in large amounts did not improve the clinical condition. In contrast, the patient began to thrive when her diet was supplemented with aspartic acid, asparagine, glutamic acid, and glutamine. The particular dietary treatment used and the biochemical findings merit consideration for management of future cases. More... »
PAGES89-94
http://scigraph.springernature.com/pub.10.1007/bf01800731
DOIhttp://dx.doi.org/10.1007/bf01800731
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1030995808
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/6422151
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": "Acidosis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Acidosis, Renal Tubular",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Amino Acids",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Cystinuria",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Fibroblasts",
"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": "Ketone Bodies",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Lactates",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Liver",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Pyruvate Carboxylase",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Pyruvate Carboxylase Deficiency Disease",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Children's Hospital of Los Angeles",
"id": "https://www.grid.ac/institutes/grid.239546.f",
"name": [
"Medical Genetics Division, Childrens Hospital of Los Angeles, P.O. Box 54700, 90054, Los Angeles, CA, USA"
],
"type": "Organization"
},
"familyName": "Oizumi",
"givenName": "J.",
"id": "sg:person.01045202771.62",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01045202771.62"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Children's Hospital of Los Angeles",
"id": "https://www.grid.ac/institutes/grid.239546.f",
"name": [
"Medical Genetics Division, Childrens Hospital of Los Angeles, P.O. Box 54700, 90054, Los Angeles, CA, USA"
],
"type": "Organization"
},
"familyName": "Shaw",
"givenName": "K. N. F.",
"id": "sg:person.012031520252.32",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012031520252.32"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Children's Hospital of Los Angeles",
"id": "https://www.grid.ac/institutes/grid.239546.f",
"name": [
"Medical Genetics Division, Childrens Hospital of Los Angeles, P.O. Box 54700, 90054, Los Angeles, CA, USA"
],
"type": "Organization"
},
"familyName": "Giudici",
"givenName": "T. A.",
"id": "sg:person.01113316171.79",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01113316171.79"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Children's Hospital of Los Angeles",
"id": "https://www.grid.ac/institutes/grid.239546.f",
"name": [
"Medical Genetics Division, Childrens Hospital of Los Angeles, P.O. Box 54700, 90054, Los Angeles, CA, USA"
],
"type": "Organization"
},
"familyName": "Carter",
"givenName": "M.",
"id": "sg:person.01105217373.18",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01105217373.18"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Children's Hospital of Los Angeles",
"id": "https://www.grid.ac/institutes/grid.239546.f",
"name": [
"Medical Genetics Division, Childrens Hospital of Los Angeles, P.O. Box 54700, 90054, Los Angeles, CA, USA"
],
"type": "Organization"
},
"familyName": "Donnell",
"givenName": "G. N.",
"id": "sg:person.01306474226.16",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01306474226.16"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Children's Hospital of Los Angeles",
"id": "https://www.grid.ac/institutes/grid.239546.f",
"name": [
"Medical Genetics Division, Childrens Hospital of Los Angeles, P.O. Box 54700, 90054, Los Angeles, CA, USA"
],
"type": "Organization"
},
"familyName": "Ng",
"givenName": "W. G.",
"id": "sg:person.012141322472.73",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012141322472.73"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1203/00006450-197704000-00003",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1000112675",
"https://doi.org/10.1203/00006450-197704000-00003"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf01799070",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1000590266",
"https://doi.org/10.1007/bf01799070"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1007/bf01799070",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1000590266"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1172/jci106251",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1001714150"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf02312533",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1003230781",
"https://doi.org/10.1007/bf02312533"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1007/bf02312533",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1003230781"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1172/jci109221",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1009428507"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf01799748",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1016611642",
"https://doi.org/10.1007/bf01799748"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1007/bf01799748",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1016611642"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1203/00006450-197902000-00005",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1017490302",
"https://doi.org/10.1203/00006450-197902000-00005"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1620/tjem.109.13",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1019352013"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf02312544",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024196634",
"https://doi.org/10.1007/bf02312544"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1007/bf02312544",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024196634"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1203/00006450-197310000-00007",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024512109",
"https://doi.org/10.1203/00006450-197310000-00007"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1651-2227.1976.tb18009.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1026279702"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1469-8749.1977.tb08376.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027373622"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1469-8749.1977.tb08376.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027373622"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1651-2227.1982.tb09412.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1030507690"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/adc.40.213.492",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1031043162"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/adc.43.230.423",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1031192429"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0003-2697(67)90005-x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1035440588"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0009-8981(70)90004-5",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039389219"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0009-8981(70)90004-5",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039389219"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/978-94-009-9215-3_16",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1042248210",
"https://doi.org/10.1007/978-94-009-9215-3_16"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0009-8981(71)90182-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1042379829"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0009-8981(71)90182-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1042379829"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0022-3476(72)80371-8",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043508394"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0009-8981(68)90258-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043582396"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0009-8981(68)90258-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043582396"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf02263625",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047341223",
"https://doi.org/10.1007/bf02263625"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1007/bf02263625",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047341223"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf01799804",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1048647176",
"https://doi.org/10.1007/bf01799804"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1007/bf01799804",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1048647176"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1210/jcem-45-6-1281",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1064309893"
],
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1080287711",
"type": "CreativeWork"
}
],
"datePublished": "1983-06",
"datePublishedReg": "1983-06-01",
"description": "This report concerns a patient with severe congenital lacticacidosis associated with proximal renal tubular acidosis and cystinuria. Enzyme studies with cultured skin fibroblasts obtained from the patient revealed zero pyruvate carboxylase activity, but propionyl-CoA carboxylase activity was normal. Administration of various vitamins in large amounts did not improve the clinical condition. In contrast, the patient began to thrive when her diet was supplemented with aspartic acid, asparagine, glutamic acid, and glutamine. The particular dietary treatment used and the biochemical findings merit consideration for management of future cases.",
"genre": "research_article",
"id": "sg:pub.10.1007/bf01800731",
"inLanguage": [
"en"
],
"isAccessibleForFree": false,
"isPartOf": [
{
"id": "sg:journal.1090550",
"issn": [
"0141-8955",
"1573-2665"
],
"name": "Journal of Inherited Metabolic Disease",
"type": "Periodical"
},
{
"issueNumber": "3",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "6"
}
],
"name": "Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria",
"pagination": "89-94",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"93a9da0541dcdb596cb13c28c06e43284def71f3053f377cd04b498dd0ca2e32"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"6422151"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"7910918"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/bf01800731"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1030995808"
]
}
],
"sameAs": [
"https://doi.org/10.1007/bf01800731",
"https://app.dimensions.ai/details/publication/pub.1030995808"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-11T01:52",
"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_8700_00000481.jsonl",
"type": "ScholarlyArticle",
"url": "http://link.springer.com/10.1007/BF01800731"
}
]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/bf01800731'
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/bf01800731'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/bf01800731'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/bf01800731'
This table displays all metadata directly associated to this object as RDF triples.
258 TRIPLES
21 PREDICATES
73 URIs
34 LITERALS
22 BLANK NODES