Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
2016; Springer Science+Business Media; Volume: 40; Issue: 1 Linguagem: Inglês
10.1007/s10545-016-9991-4
ISSN1573-2665
AutoresMartina Huemer, Daria Diodato, Bernd Schwahn, Manuel Schiff, Anabela Bandeira, Jean‐François Benoist, Alberto Burlina, R. Cerone, María L. Couce, Ángeles García‐Cazorla, Giancarlo la Marca, Elisabetta Pasquini, Laura Vilarinho, James D. Weisfeld‐Adams, Viktor Kožich, Henk J. Blom, Matthias R. Baumgartner, Carlo Dionisi‐Vici,
Tópico(s)Iron Metabolism and Disorders
ResumoRemethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions.
Referência(s)