Cargando…

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

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

Detalles Bibliográficos
Autores principales: Girisha, Katta Mohan, Shrikiran, Aroor, Bidchol, Abdul Mueed, Sakamoto, Osamu, Gopinath, Puthiya Mundyat, Satyamoorthy, Kapaettu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656526/
https://www.ncbi.nlm.nih.gov/pubmed/23716945
http://dx.doi.org/10.4103/0971-6866.108025
_version_ 1782270023414317056
author Girisha, Katta Mohan
Shrikiran, Aroor
Bidchol, Abdul Mueed
Sakamoto, Osamu
Gopinath, Puthiya Mundyat
Satyamoorthy, Kapaettu
author_facet Girisha, Katta Mohan
Shrikiran, Aroor
Bidchol, Abdul Mueed
Sakamoto, Osamu
Gopinath, Puthiya Mundyat
Satyamoorthy, Kapaettu
author_sort Girisha, Katta Mohan
collection PubMed
description We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy.
format Online
Article
Text
id pubmed-3656526
institution National Center for Biotechnology Information
language English
publishDate 2012
publisher Medknow Publications & Media Pvt Ltd
record_format MEDLINE/PubMed
spelling pubmed-36565262013-05-28 Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type Girisha, Katta Mohan Shrikiran, Aroor Bidchol, Abdul Mueed Sakamoto, Osamu Gopinath, Puthiya Mundyat Satyamoorthy, Kapaettu Indian J Hum Genet Case Report We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3656526/ /pubmed/23716945 http://dx.doi.org/10.4103/0971-6866.108025 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Girisha, Katta Mohan
Shrikiran, Aroor
Bidchol, Abdul Mueed
Sakamoto, Osamu
Gopinath, Puthiya Mundyat
Satyamoorthy, Kapaettu
Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type
title Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type
title_full Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type
title_fullStr Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type
title_full_unstemmed Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type
title_short Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type
title_sort novel mutation in an indian patient with methylmalonic acidemia, cbla type
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656526/
https://www.ncbi.nlm.nih.gov/pubmed/23716945
http://dx.doi.org/10.4103/0971-6866.108025
work_keys_str_mv AT girishakattamohan novelmutationinanindianpatientwithmethylmalonicacidemiacblatype
AT shrikiranaroor novelmutationinanindianpatientwithmethylmalonicacidemiacblatype
AT bidcholabdulmueed novelmutationinanindianpatientwithmethylmalonicacidemiacblatype
AT sakamotoosamu novelmutationinanindianpatientwithmethylmalonicacidemiacblatype
AT gopinathputhiyamundyat novelmutationinanindianpatientwithmethylmalonicacidemiacblatype
AT satyamoorthykapaettu novelmutationinanindianpatientwithmethylmalonicacidemiacblatype