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Article

Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow.

Indian pediatrics - 1 Jun 2012

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

Abstract excerpt

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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PMID: 22796693
DOI: 10.1007/s13312-012-0095-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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