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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Descrição
The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease
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IJNS, Free Full-Text
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
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Information and Diagnosis Networks Summary.
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IJNS, Free Full-Text
Frontiers Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review
PDF) Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
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