Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Margaret L. Illson"'
Autor:
Carl T. Wittwer, David Watkins, David S. Rosenblatt, Alison Brebner, Michael L. Raff, Brian M. Gilfix, Laura Dempsey-Nunez, Qiuying Huang, Jana Kent, Margaret L. Illson
Publikováno v:
Molecular Genetics and Metabolism. 110:86-89
Isolated methylmalonic aciduria (MMA) results either from a defect in the mitochondrial enzyme methylmalonylCoA mutase (MCM), or in the intracellular conversion of vitamin B 12 (cobalamin) into its active coenzyme adenosylcobalamin (AdoCbl). Mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a968a1c06e1b8223ce53576f5157151
https://doi.org/10.1016/j.ymgme.2013.04.020
https://doi.org/10.1016/j.ymgme.2013.04.020
Autor:
Laura Dempsey-Nunez, Margaret L. Illson, Qiuying Huang, Jana Kent, Carl T. Wittwer, Alison Brebner, Brian M. Gilfix, David Watkins, David S. Rosenblatt
Publikováno v:
Molecular Genetics and Metabolism. 107:363-367
The gene product of MMAA is required for the intracellular metabolism of cobalamin (Cbl). Mutations in this gene lead to the cblA class of disorders, characterized by isolated methylmalonic aciduria. We have been concerned that somatic cell methods o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45b374ea3935223b010a6d8ca83296a8
https://doi.org/10.1016/j.ymgme.2012.09.012
https://doi.org/10.1016/j.ymgme.2012.09.012