Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

BACKGROUND: Despite its first description over 40 years ago, knowledge of the clinical course of isovaleric acidemia (IVA), a disorder predisposing to severe acidotic episodes during catabolic stress, is still anecdotal. We aimed to investigate the phenotypic presentation and factors determining the...

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Hlavní autoři: Grünert, Sarah C, Wendel, Udo, Lindner, Martin, Leichsenring, Michael, Schwab, K Otfried, Vockley, Jerry, Lehnert, Willy, Ensenauer, Regina
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2012
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3292949/
https://ncbi.nlm.nih.gov/pubmed/22277694
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-9
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