Novel mutation in an Indian patient with methylmalonic acidemia, cbIA type

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

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)346-348
Number of pages3
JournalIndian Journal of Human Genetics
Volume18
Issue number3
DOIs
Publication statusPublished - 2012 Sep 1

Keywords

  • Genetics
  • Methylmalonic acidemia
  • Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Girisha, K. M., Shrikiran, A., Bidchol, A. M., Sakamoto, O., Gopinath, P. M., & Satyamoorthy, K. (2012). Novel mutation in an Indian patient with methylmalonic acidemia, cbIA type. Indian Journal of Human Genetics, 18(3), 346-348. https://doi.org/10.4103/0971-6866.108025