Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

BACKGROUND: The cblC defect is a rare inborn error of intracellular cobalamin metabolism. Biochemical hallmarks are elevated homocysteine and low methionine in plasma accompanied by methylmalonic aciduria. Due to the heterogeneous clinical picture, patients with the late-onset form of the disease (o...

Descripción completa

Detalles Bibliográficos
Autores principales: Huemer, Martina, Scholl-Bürgi, Sabine, Hadaya, Karine, Kern, Ilse, Beer, Ronny, Seppi, Klaus, Fowler, Brian, Baumgartner, Matthias R, Karall, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255922/
https://www.ncbi.nlm.nih.gov/pubmed/25398587
http://dx.doi.org/10.1186/s13023-014-0161-1

Ejemplares similares

Ejemplares similares