NIEMANN PICK DISEASE DIAGNOSED ON BONE MARROW ASPIRATION
نویسندگان
چکیده
منابع مشابه
Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow.
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.
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ژورنال
عنوان ژورنال: Journal of Evolution of Medical and Dental Sciences
سال: 2015
ISSN: 2278-4748,2278-4802
DOI: 10.14260/jemds/2015/483