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Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle

We describe a 22-year-old male who developed severe hypoglycemia and lethargy during an acute illness at 4 months of age and subsequently grew and developed normally. At age 4 years he developed recurrent vomiting with mild hyperammonemia and dehydration requiring frequent hospitalizations. Glutaric...

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מידע ביבליוגרפי
Main Authors: Wolfe, Lynne A., He, Miao, Vockley, Jerry, Payne, Nicole, Rhead, William, Hoppel, Charles, Spector, Elaine, Gernert, Kim, Gibson, K. Michael
פורמט: Artigo
שפה:Inglês
יצא לאור: 2010
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3970109/
https://ncbi.nlm.nih.gov/pubmed/21088898
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-010-9246-8
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