1.
Indian Pediatr
; 2012 June; 49(6): 490-492
Artigo
em Inglês
| IMSEAR
| ID: sea-169374
RESUMO
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.