Infant with Type A Niemann Pick Disease and Undetectable Niemann Pick Cells in Bone Marrow.
| dc.contributor.author | Mukherjee, Sharmila Banerjee | |
| dc.contributor.author | Pandey, Meenu | |
| dc.contributor.author | Kapoor, Seema | |
| dc.contributor.author | Priya, T Padma | |
| dc.date.accessioned | 2015-12-31T06:08:04Z | |
| dc.date.available | 2015-12-31T06:08:04Z | |
| dc.date.issued | 2012-06 | |
| dc.description.abstract | Bone marrow aspiration is the preliminary investigation in Niemann Pick disease type A when enzyme assays and mutation studies are unavailable. We report an infant with typical phenotype and enzyme deficiency, but undetectable Niemann Pick cells in the bone marrow. A new mutation R542X in SMPD gene was also detected. | en_US |
| dc.identifier.citation | Mukherjee Sharmila Banerjee, Pandey Meenu, Kapoor Seema, Priya T Padma. Infant with Type A Niemann Pick Disease and Undetectable Niemann Pick Cells in Bone Marrow. Indian Pediatrics. 2012 June; 49(6): 490-492. | en_US |
| dc.identifier.uri | https://imsear.searo.who.int/handle/123456789/169374 | |
| dc.language.iso | en | en_US |
| dc.source.uri | https://www.indianpediatrics.net/june2012/june-490-492.htm | en_US |
| dc.subject | Bone marrow | en_US |
| dc.subject | Niemann pick disease type A | en_US |
| dc.subject | Diagnosis | en_US |
| dc.title | Infant with Type A Niemann Pick Disease and Undetectable Niemann Pick Cells in Bone Marrow. | en_US |
| dc.type | Article | en_US |