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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Grünert, Sarah C, Wendel, Udo, Lindner, Martin, Leichsenring, Michael, Schwab, K Otfried, Vockley, Jerry, Lehnert, Willy, Ensenauer, Regina
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2012
Aiheet:
Research
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia