Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type.

ABSTRACT: We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy.

SUBMITTER: Girisha KM 

PROVIDER: S-EPMC3656526 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature