Browsing by Author "Priya, T Padma"
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Item Infant with Type A Niemann Pick Disease and Undetectable Niemann Pick Cells in Bone Marrow.(2012-06) Mukherjee, Sharmila Banerjee; Pandey, Meenu; Kapoor, Seema; Priya, T PadmaBone 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.