title: 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.
authors.affiliation: Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Katta Mohan
authors.initials: KM
authors.lastname: Girisha
authors.forename: Aroor
authors.initials: A
authors.lastname: Shrikiran
authors.forename: Abdul Mueed
authors.initials: AM
authors.lastname: Bidchol
authors.forename: Osamu
authors.initials: O
authors.lastname: Sakamoto
authors.forename: Puthiya Mundyat
authors.initials: PM
authors.lastname: Gopinath
authors.forename: Kapaettu
authors.initials: K
authors.lastname: Satyamoorthy
keywords: Genetics; methylmalonic acidemia; mutation