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...

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Foilsithe in:Orphanet J Rare Dis
Main Authors: Huemer, Martina, Scholl-Bürgi, Sabine, Hadaya, Karine, Kern, Ilse, Beer, Ronny, Seppi, Klaus, Fowler, Brian, Baumgartner, Matthias R, Karall, Daniela
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2014
Ábhair:
Research
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4255922/
https://ncbi.nlm.nih.gov/pubmed/25398587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0161-1
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