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A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report

BACKGROUND: Transient infantile hypertriglyceridemia (HTGTI) is an autosomal recessive disorder caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene. CASE PRESENTATION: We report a case of HTGTI in a Chinese female infant. She presented with hepatomegaly, hypertriglyceridemia,...

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Detalles Bibliográficos
Autores principales:	Li, Jia-Qi, Xie, Xin-Bao, Feng, Jia-Yan, Chen, Lian, Abuduxikuer, Kuerbanjiang, Lu, Yi, Li, Yu-Chuan, Wang, Jian-She
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020200/ https://www.ncbi.nlm.nih.gov/pubmed/29940878 http://dx.doi.org/10.1186/s12876-018-0827-6

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