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 - 09-2012

    Fingerprint

    Phenotype
    Mutation
    Therapeutics
    Methylmalonic aciduria cblA type
    Methylmalonic acidemia

    All Science Journal Classification (ASJC) codes

    • Genetics
    • Genetics(clinical)

    Cite this

    Girisha, Katta Mohan ; Shrikiran, Aroor ; Bidchol, Abdul Mueed ; Sakamoto, Osamu ; Gopinath, Puthiya Mundyat ; Satyamoorthy, Kapaettu. / Novel mutation in an Indian patient with methylmalonic acidemia, cbIA type. In: Indian Journal of Human Genetics. 2012 ; Vol. 18, No. 3. pp. 346-348.
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    Novel mutation in an Indian patient with methylmalonic acidemia, cbIA type. / Girisha, Katta Mohan; Shrikiran, Aroor; Bidchol, Abdul Mueed; Sakamoto, Osamu; Gopinath, Puthiya Mundyat; Satyamoorthy, Kapaettu.

    In: Indian Journal of Human Genetics, Vol. 18, No. 3, 09.2012, p. 346-348.

    Research output: Contribution to journalArticle

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    AU - Girisha, Katta Mohan

    AU - Shrikiran, Aroor

    AU - Bidchol, Abdul Mueed

    AU - Sakamoto, Osamu

    AU - Gopinath, Puthiya Mundyat

    AU - Satyamoorthy, Kapaettu

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