Infant with Type A Niemann Pick Disease and Undetectable Niemann Pick Cells in Bone Marrow.
Loading...
Date
2012-06
Journal Title
Journal ISSN
Volume Title
Publisher
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.
Description
Keywords
Bone marrow, Niemann pick disease type A, Diagnosis
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.