Condition: Niemann-Pick Disease, Type B


rs1057517195 in SMPD1 gene and Niemann-Pick Disease, Type B 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 16642440 2006 Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.

PMID 21454466 2011 Is active acid sphingomyelinase required for the antiproliferative response to rituximab?

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

PMID 1391960 1992 Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.

PMID 2023926 1991 Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.

PMID 1885770 1991 These results indicate that the delta R608 mutation predicts the Type B Niemann-Pick disease phenotype, even in the presence of the R496L Type A allele, thereby providing the first genotype/phenotype correlation for this lysosomal storage disease.

PMID 18815062 2008 Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models.

PMID 21502868 2011 Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.

PMID 8225311 1993 Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.

PMID 19405096 2009 Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.

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 1885770 1991 Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.

PMID 8664904 1996 Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.

PMID 27659707 2016 Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency.

PMID 8051942 1994 A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.

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

PMID 27338287 2016 Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.

PMID 1618760 1992 Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.

PMID 16010684 2005 Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.

PMID 23430512 2013 The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity.

PMID 20386867 2010 Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.

PMID 22613662 2012 A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease.

PMID 21621718 2011 PAS-positive macrophages--not always infection.

PMID 16472269 2006 Clinical findings in Niemann-Pick disease type B.

PMID 26499107 2016 SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

PMID 1301192 1992 Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.

PMID 19050888 2009 A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease.

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

PMID 22818240 2012 Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

PMID 26981555 2016 Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

PMID 17876723 2007 Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.

PMID 12369017 2002 In particular, the L137P, A196P, and R474W mutations were consistent with a less severe form of type B NPD, whereas the H421Y and K576N mutations led to an early-onset, more severe form that was specific to Saudi Arabia.

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

PMID 22796693 2012 Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow.

PMID 12607113 2003 Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol.

PMID 8680412 1995 Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.

PMID 9266408 1997 Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.

PMID 15241805 2004 Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.

PMID 12369017 2002 In particular, the L137P, A196P, and R474W mutations were consistent with a less severe form of type B NPD, whereas the H421Y and K576N mutations led to an early-onset, more severe form that was specific to Saudi Arabia.

PMID 12712061 2003 Growth restriction in children with type B Niemann-Pick disease.

PMID 15234149 2004 Ocular manifestations of Niemann-Pick disease type B.

PMID 23252888 2013 Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.

PMID 1301192 1992 Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.

PMID 8401540 1993 Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.

PMID 23188845 2012 R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease.

PMID 15221801 2004 Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.

PMID 24767253 2014 Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

PMID 26913189 2015 Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A.

PMID 10694919 1998 Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. Online.

PMID 12369017 2002 In particular, the L137P, A196P, and R474W mutations were consistent with a less severe form of type B NPD, whereas the H421Y and K576N mutations led to an early-onset, more severe form that was specific to Saudi Arabia.

PMID 12556236 2003 Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients.

PMID 15545621 2004 The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.

PMID 26084044 2015 Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.

PMID 23356216 2013 Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.