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Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type
Katta Mohan Girisha1, Aroor Shrikiran, Abdul Mueed Bidchol
1Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.
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.
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