Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

<p>Abstract</p> <p>Background</p> <p>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 an...

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Autors principals:	Grünert Sarah C, Wendel Udo, Lindner Martin, Leichsenring Michael, Schwab K Otfried, Vockley Jerry, Lehnert Willy, Ensenauer Regina
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2012-01-01
Col·lecció:	Orphanet Journal of Rare Diseases
Matèries:	isovaleric acidemia symptomatic neurocognitive outcome mortality
Accés en línia:	http://www.ojrd.com/content/7/1/9
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