SciELO - Brasil - Niemann-Pick disease type C: a case series of Brazilian patients Niemann-Pick disease type C: a case series of Brazilian patients
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The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease
Adult‐onset Niemann–Pick disease type C masquerading as spinocerebellar ataxia - Vo - 2022 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Subcortical Volumetric Reductions in Adult Niemann-Pick Disease Type C: A Cross-Sectional Study
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family, BMC Neurology
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NPC Clinical Severity Scores: Pre-and post-IV infusion. The center
A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia - ScienceDirect
(PDF) Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician
PDF) Lung cyst: An unusual manifestation of Niemann–Pick disease
Niemann–Pick type C: a potentially treatable disorder?
SciELO - Brasil - COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data
Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management, BMC Medical Genetics
Niemann-Pick Disease Type C, A Rare Cause of Pancytopenia: A Case Report
Niemann–Pick disease type C1 (NPC1) is associated with early-onset
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