Infant with Type A Niemann Pick Disease and Undetectable Niemann Pick Cells in Bone Marrow View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2012-06

AUTHORS

Sharmila Banerjee Mukherjee, Meenu Pandey, Seema Kapoor, T Padma Priya

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.

PAGES

490-492

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s13312-012-0095-4

DOI

http://dx.doi.org/10.1007/s13312-012-0095-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1015484463

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22796693


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