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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 |
| _version_ | 1782270023414317056 |
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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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