Title : Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.

Pub. Date : 2019 Feb 22

PMID : 30795770






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Plasmatic lysosphingomyelin (SPC) was elevated in all the patients except one with p.V36A homozygosity and a very mild phenotype also presenting with elevated plasmatic SPC-509 but normal chitotriosidase activity. sphingosine phosphorylcholine proline rich protein gene cluster Homo sapiens
2 The combined measurement of lysosphingomyelin (SPC) and lysospingomyelin-509 (SPC-509) is an essential method for the assessment of ASMD course. sphingosine phosphorylcholine proline rich protein gene cluster Homo sapiens