Associated Papers
Clinical, genotypic, and neuropsychological profile in a series of patients with Niemann-Pick type C disease.
Dos Santos Mendes R et al.
Frontiers in Neurology, 2025
Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series.
Saneifard H et al.
Molecular Genetics and Metabolism Reports, 2024
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1.
Liang H et al.
Journal of Inherited Metabolic Disease, 2024
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Freihuber C et al.
Orphanet Journal of Rare Diseases, 2023
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
Millat G et al.
Molecular Genetics and Metabolism, 0
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