Carregant...

Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine

We report three patients with elevations of propionylcarnitine (C3), one without elevations of 2-methylcitrate and 3-hydroxypropionate in urine organic acid analysis, and the other two showing only mild elevations, all of whom were subsequently confirmed to have propionic acidemia by molecular analy...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:JIMD Rep
Autors principals: Cappuccio, Gerarda, Atwal, Paldeep S., Donti, Taraka R., Ugarte, Kiki, Merchant, Nadia, Craigen, William J., Sutton, V. Reid, Elsea, Sarah H.
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5585109/
https://ncbi.nlm.nih.gov/pubmed/27900673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_21
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!