Document Detail

Infant with type a niemann pick disease and undetectable niemann pick cells in bone marrow.
MedLine Citation:
PMID:  22796693     Owner:  NLM     Status:  In-Data-Review    
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.
Sharmila Banerjee Mukherjee; Meenu Pandey; Seema Kapoor; T Padma Priya
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Indian pediatrics     Volume:  49     ISSN:  0974-7559     ISO Abbreviation:  Indian Pediatr     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-07-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985062R     Medline TA:  Indian Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  490-2     Citation Subset:  IM    
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.
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