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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.
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2012
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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 |
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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 |
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