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

Katta M. Girisha,Aroor Shrikiran,Abdul Mueed Bidchol,Osamu Sakamoto,Puthiya Mundyat Gopinath,Kapaettu Satyamoorthy

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

2012

Katta M. Girisha
Aroor Shrikiran
Abdul Mueed Bidchol
Osamu Sakamoto
Puthiya Mundyat Gopinath
Kapaettu Satyamoorthy

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

Keywords:

Genetics
Methylmalonic acidemia
Mutation
Pediatrics
Methylmalonic acidemia cblA type
Biology
novel mutation
clinical phenotype
response to therapy
Bioinformatics

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