A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy

Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II (GAII) is a clinically heterogeneous disorder affecting fatty acid and amino acid metabolism. Presentations range from a severe neonatal form with hypoglycemia, metabolic acidosis, and hepatomegaly with or without congeni...

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Vydáno v:JIMD Rep
Hlavní autoři: Ryder, B., Tolomeo, M., Nochi, Z., Colella, M., Barile, M., Olsen, R. K., Inbar-Feigenberg, M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2018
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6336555/
https://ncbi.nlm.nih.gov/pubmed/30311138
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_139
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