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

Mugdha Joshi(Boston Children's Hospital), Pankaj B. Agrawal(Post Graduate Institute of Medical Education and Research), Michael J. Bennett(Children's Hospital of Philadelphia), Kristyn M. Esteves(Boston Children's Hospital), Nirav K. Desai(Takeda (United States)), Sarah D. de Ferranti, Alan H. Beggs(Boston Children's Hospital), Meghan C. Towne(Ambry Genetics (United States)), Nicholas S. Marinakis(Boston Children's Hospital), Jacqueline Eagan(Boston Children's Hospital), Gerard T. Berry(Boston Children's Hospital), Stephanie A. Newton(Boston Children's Hospital), Adam D. McIntyre(Western University)
European Journal of Human Genetics
February 19, 2014
Cited by 54


Related Papers