Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

BACKGROUND: Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions. OBJECTIVE: To summarise clinical and biochemical characteristics of these severe diso...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Huemer, Martina, Diodato, Daria, Schwahn, Bernd, Schiff, Manuel, Bandeira, Anabela, Benoist, Jean-Francois, Burlina, Alberto, Cerone, Roberto, Couce, Maria L., Garcia-Cazorla, Angeles, la Marca, Giancarlo, Pasquini, Elisabetta, Vilarinho, Laura, Weisfeld-Adams, James D., Kožich, Viktor, Blom, Henk, Baumgartner, Matthias R., Dionisi-Vici, Carlo
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2016
Assuntos:
Guidelines
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5203859/
https://ncbi.nlm.nih.gov/pubmed/27905001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-016-9991-4
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