SciELO - Brasil - Niemann-Pick disease type C: a case series of Brazilian patients Niemann-Pick disease type C: a case series of Brazilian patients
Por um escritor misterioso
Descrição
The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease
SciELO - Brasil - Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele Distinct Niemann-Pick Disease Type C Clinical, Cytological, and
IJMS, Free Full-Text
SciELO - Brasil - Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in
Adult onset Niemann–Pick type C disease: Two different presentations
Diagnostic Networks flowchart showing the operation from the clinical
Adult‐onset Niemann–Pick disease type C masquerading as spinocerebellar ataxia - Vo - 2022 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Niemann-Pick disease type C
SciELO - Brasil - Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele Distinct Niemann-Pick Disease Type C Clinical, Cytological, and
IJNS, Free Full-Text
Estimated prevalence of Niemann–Pick type C disease in Quebec
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