Infant with Type A Niemann Pick Disease and Undetectable Niemann Pick Cells in Bone Marrow.
Indian Pediatr
;
2012 June; 49(6): 490-492
Artigo
em Inglês
| IMSEAR
| ID: sea-169374
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2012
Tipo de documento:
Artigo
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