PMC Links for Nucleotide (Select 381140032) - PMC

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Items: 2

Select item 32578521.

Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1

Lina Basel-Vanagaite, Noam Zevit, Adi Har Zahav, Liang Guo, Saj Parathath, Metsada Pasmanik-Chor, Adam D. McIntyre, Jian Wang, Adi Albin-Kaplanski, Corina Hartman, Daphna Marom, Avraham Zeharia, Abir Badir, Oded Shoerman, Amos J. Simon, Gideon Rechavi, Mordechai Shohat, Robert A. Hegele, Edward A. Fisher, Raanan Shamir

Am J Hum Genet. 2012 Jan 13; 90(1): 49–60. doi: 10.1016/j.ajhg.2011.11.028

PMCID:: PMC3257852

Abstract Article PDF–1.3M

Select item 41695452.

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

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

Eur J Hum Genet. 2014 Oct; 22(10): 1229–1232. Published online 2014 Feb 19. doi: 10.1038/ejhg.2014.8