Associated Papers
Retinal axonal degeneration in Niemann-Pick type C disease.
Havla J et al.
Journal of Neurology, 2020
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y et al.
Orphanet Journal of Rare Diseases, 2018
30285904 (PubMed )
Supplement: 13023_2018_913_MOESM1_ESM.docx
The adult form of Niemann-Pick disease type C.
Sévin M et al.
Brain : a Journal of Neurology, 2007
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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