An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

Derivatives of vitamin B(12) (cobalamin) are essential cofactors for enzymes required in intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized by the accumulation of methylmalonic acid and/or homocysteine in blood and urine. The most common inborn error of cobalami...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Yu, Hung-Chun, Sloan, Jennifer L., Scharer, Gunter, Brebner, Alison, Quintana, Anita M., Achilly, Nathan P., Manoli, Irini, Coughlin, Curtis R., Geiger, Elizabeth A., Schneck, Una, Watkins, David, Suormala, Terttu, Van Hove, Johan L.K., Fowler, Brian, Baumgartner, Matthias R., Rosenblatt, David S., Venditti, Charles P., Shaikh, Tamim H.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2013
Materias:
Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3769968/
https://ncbi.nlm.nih.gov/pubmed/24011988
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.07.022
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares