SciELO - Brasil - Niemann-Pick disease type C: a case series of Brazilian patients Niemann-Pick disease type C: a case series of Brazilian patients

The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease

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PDF) Lung cyst: An unusual manifestation of Niemann–Pick disease

SciELO - Brasil - Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases Information and Diagnosis Networks – tools to improve diagnosis and treatment

New variants in Spanish Niemann–Pick type c disease patients

SciELO - Brasil - Lysosomal acid lipase deficiency in Brazilian children: a case series Lysosomal acid lipase deficiency in Brazilian children: a case series

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Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine

(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

SciELO - Brasil - Niemann-Pick disease type B: HRCT assessment of pulmonary involvement Niemann-Pick disease type B: HRCT assessment of pulmonary involvement

Frontiers Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review