Source:http://linkedlifedata.com/resource/pubmed/id/11343052
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
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pubmed:dateCreated |
2001-5-8
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pubmed:abstractText |
Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. Adult-onset type II citrullinemia may be associated with infantile cholestatic disease.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0022-3476
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
138
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
735-40
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11343052-Biopsy,
pubmed-meshheading:11343052-Cholestasis,
pubmed-meshheading:11343052-Citrullinemia,
pubmed-meshheading:11343052-Female,
pubmed-meshheading:11343052-Humans,
pubmed-meshheading:11343052-Infant, Newborn,
pubmed-meshheading:11343052-Jaundice, Neonatal,
pubmed-meshheading:11343052-Liver,
pubmed-meshheading:11343052-Molecular Sequence Data
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pubmed:year |
2001
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pubmed:articleTitle |
Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.
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pubmed:affiliation |
Department of Pediatrics, Faculty of Medicine, Tottori University, Yonago, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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