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Article

A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.

Journal of inherited metabolic disease - 1 Jan 2005

van Diggelen O P, Voznyi Ya V, Keulemans J L M, Schoonderwoerd K, Ledvinova J, Mengel E, Zschiesche M, Santer R, Harzer K

Abstract excerpt

6-Hexadecanoylamino-4-methylumbelliferylphosphorylcholine (HMUPC) was shown to be a specific substrate for the determination of acid (lysosomal) sphingomyelinase (ASM; gene SMPD1). Fibroblasts (n = 27) and leukocytes (n = 8) from both the A and B types of Niemann-Pick disease showed < 6% and < 10% of mean normal ASM activity, respectively. Niemann-Pick A or B patients bearing the Q292K mutation had apparently...

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Identifiers

PMID: 16151905
DOI: 10.1007/s10545-005-0105-y

Genes

SMPD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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