Article
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Nature genetics - 1 Jan 2006
Lerner-Ellis Jordan P, Tirone Jamie C, Pawelek Peter D, Doré Carole, Atkinson Janet L, Watkins David, Morel Chantal F, Fujiwara T Mary, Moras Emily, Hosack Angela R, Dunbar Gail V, Antonicka Hana, Forgetta Vince, Dobson C Melissa, Leclerc Daniel, Gravel Roy A, Shoubridge Eric A, Coulton James W, Lepage Pierre, Rommens Johanna M, Morgan Kenneth, Rosenblatt David S
Abstract excerpt
Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common inborn error of vitamin B(12) (cobalamin) metabolism, with about 250 known cases. Affected individuals have developmental, hematological, neurological, metabolic, ophthalmologic and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. The cblC...
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