Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10833869 | Molecular Genetics and Metabolism | 2011 | 4 Pages |
Abstract
⺠The PHKA2 mutation p.Pro1205Leu is common in Dutch patients; Early diarrhea and growth delay might appear before hepatomegaly. ⺠Significantly elevated liver transaminase and lactate levels occur frequently. ⺠Some patients with hypoglycemia require tube feeding. ⺠Urine tetraglucoside excretion in sensitive for diagnostics and treatment follow-up.
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Authors
Samira Achouitar, Jennifer L. Goldstein, Miski Mohamed, Stephanie Austin, Keri Boyette, Francoise M. Blanpain, Catherine W. Rehder, Priya S. Kishnani, Saskia B. Wortmann, Martin den Heijer, Dirk J. Lefeber, Ron A. Wevers, Deeksha S. Bali, Eva Morava,