Mukherjee, Sharmila BanerjeePandey, MeenuKapoor, SeemaPriya, T Padma2015-12-312015-12-312012-06Mukherjee 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.http://imsear.searo.who.int/handle/123456789/169374Bone 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.enBone marrowNiemann pick disease type ADiagnosisArticle