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

The molecular basis for primary hereditary hypertriglyceridemia has been identified in fewer than 5% of cases. Investigation of monogenic dyslipidemias has the potential to expose key metabolic pathways. We describe a hitherto unreported disease in ten individuals manifesting as moderate to severe t...

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Autori principali: Basel-Vanagaite, Lina, Zevit, Noam, Zahav, Adi Har, Guo, Liang, Parathath, Saj, Pasmanik-Chor, Metsada, McIntyre, Adam D., Wang, Jian, Albin-Kaplanski, Adi, Hartman, Corina, Marom, Daphna, Zeharia, Avraham, Badir, Abir, Shoerman, Oded, Simon, Amos J., Rechavi, Gideon, Shohat, Mordechai, Hegele, Robert A., Fisher, Edward A., Shamir, Raanan
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3257852/
https://ncbi.nlm.nih.gov/pubmed/22226083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.11.028
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