| Infant with type a niemann pick disease and undetectable niemann pick cells in bone marrow. | |
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MedLine Citation:
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PMID: 22796693 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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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Authors:
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Sharmila Banerjee Mukherjee; Meenu Pandey; Seema Kapoor; T Padma Priya |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Indian pediatrics Volume: 49 ISSN: 0974-7559 ISO Abbreviation: Indian Pediatr Publication Date: 2012 Jun |
Date Detail:
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Created Date: 2012-07-16 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 2985062R Medline TA: Indian Pediatr Country: India |
Other Details:
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Languages: eng Pagination: 490-2 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children Hospital, New Delhi; *Department of Pediatrics, Maulana Azad Medical College and associated Lok Nayak Hospital, New Delhi; and **Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India. Correspondence to: Dr Sharmila B Mukherjee, Associate Professor, Department of Pediatrics, Lady Hardinge Medical College, New Delhi. theshormi@yahoo.co.in. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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