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

doi:10.4103/0971-6866.108025

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 journal › Article › peer-review

4 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 language	English
Pages (from-to)	346-348
Number of pages	3
Journal	Indian Journal of Human Genetics
Volume	18
Issue number	3
DOIs	https://doi.org/10.4103/0971-6866.108025
Publication status	Published - 09-2012

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.4103/0971-6866.108025

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title = "Novel mutation in an Indian patient with methylmalonic acidemia, cbIA 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.",

author = "Girisha, {Katta Mohan} and Aroor Shrikiran and Bidchol, {Abdul Mueed} and Osamu Sakamoto and Gopinath, {Puthiya Mundyat} and Kapaettu Satyamoorthy",

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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

PY - 2012/9

Y1 - 2012/9

N2 - We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy.

AB - 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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M3 - Article

AN - SCOPUS:84875734423

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SP - 346

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JO - Indian Journal of Human Genetics

JF - Indian Journal of Human Genetics

IS - 3

ER -

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

Abstract

All Science Journal Classification (ASJC) codes

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