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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2010
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| Θέματα: | |
| Διαθέσιμο Online: | 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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