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Niemann-Pick disease A or B in four pediatric patients and SMPD1

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Last updated 07 novembro 2024

Niemann-Pick disease A or B in four pediatric patients and SMPD1

PDF) Niemann- Pick disease type B. Study of three cases and literature revision

PDF) A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene

Spectrum of SMPD1 mutations in Asian‐Indian patients with acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease - Ranganath - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

PDF) R542X mutation in SMPD1 gene: Genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease

Niemann-Pick Disease, Type C1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome, BMC Medical Genomics

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