Condition: Niemann-Pick Diseases


rs120074118 in SMPD1 gene and Niemann-Pick Diseases PMID 15545621 2004 The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.

PMID 12694237 2003 The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B.

PMID 12369017 2002 The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

PMID 14681755 2003 Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.

PMID 15877209 2005 Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.

PMID 17011332 2006 Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.

PMID 25920558 2016 Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.