Niemann-Pick disease A or B in four pediatric patients and SMPD1
Por um escritor misterioso
Last updated 05 julho 2024
Morbidity and mortality in type B Niemann–Pick disease
Niemann-Pick Disease Concise Medical Knowledge
JCM, Free Full-Text
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease, Orphanet Journal of Rare Diseases
Cureus, Niemann-Pick Disease: A Case Report and Literature Review
A proposed model for the pathogenesis of Niemann-Pick disease type
PDF) Niemann-Pick type A disease with new mutation: a case report
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 type C
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease, Orphanet Journal of Rare Diseases
Natural history and management of liver dysfunction in lysosomal storage disorders
Niemann Pick Disease Type A and Type B - causes, symptoms, diagnosis, treatment, pathology
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