A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia-Reference-Cited by-同舟云学术

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

Published:2014-02-19 Issue:10 Volume:22 Page:1229-1232
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Joshi Mugdha,Eagan Jacqueline,Desai Nirav K,Newton Stephanie A,Towne Meghan C,Marinakis Nicholas S,Esteves Kristyn M,De Ferranti Sarah,Bennett Michael J,McIntyre Adam,Beggs Alan H,Berry Gerard T,Agrawal Pankaj B

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg20148.pdf

Reference13 articles.

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2. Basel-Vanagaite L, Zevit N, Har Zahav A et al: Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. Am J Hum Genet 2012; 90: 49–60.

3. Peterfy M, Ben-Zeev O, Mao HZ et al: Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. Nat Genet 2007; 39: 1483–1487.

4. Brahm A, Hegele RA : Hypertriglyceridemia. Nutrients 2013; 5: 981–1001.

5. Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J : Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med 2004; 25: 495–520.

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