A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient wi...
A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Transient infantile hypertriglyceridemia (HTGTI) is an autosomal recessive disorder caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene.
We report a case of HTGTI in a Chinese female infant. She presented with hepatomegaly, hypertriglyceridemia, moderately elevated transaminases, and hepatic steatosis at 3.5 months of age...
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Full title
A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_d298f99a9f264b1193dd8b4a9296bcbe
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d298f99a9f264b1193dd8b4a9296bcbe
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ISSN
1471-230X
E-ISSN
1471-230X
DOI
10.1186/s12876-018-0827-6
