Source:http://linkedlifedata.com/resource/pubmed/id/16775724
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
11
|
| pubmed:dateCreated |
2006-9-21
|
| pubmed:databankReference | |
| pubmed:abstractText |
Lysinuric protein intolerance (LPI; MIM 222700) is a rare, autosomal recessive metabolic disorder caused by mutations in the SLC7A7 gene, which encodes the light chain of the cationic amino acids (CAA) transporter y+. The clinical presentation of LPI includes gastrointestinal symptoms, failure to thrive, episodes of coma, hepatosplenomegaly and osteoporosis. However, other findings have also been reported, and these suggest a multisystem involvement.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
0340-6199
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
165
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
763-6
|
| pubmed:meshHeading |
pubmed-meshheading:16775724-Amino Acid Metabolism, Inborn Errors,
pubmed-meshheading:16775724-Child, Preschool,
pubmed-meshheading:16775724-Female,
pubmed-meshheading:16775724-Growth Disorders,
pubmed-meshheading:16775724-Human Growth Hormone,
pubmed-meshheading:16775724-Humans,
pubmed-meshheading:16775724-Lysine
|
| pubmed:year |
2006
|
| pubmed:articleTitle |
Growth hormone deficiency in a patient with lysinuric protein intolerance.
|
| pubmed:affiliation |
Department of Pediatrics, Federico II University of Naples, Via S. Pansini 5-80131, Naples, Italy.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|