Associated Papers
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T et al.
The New England Journal of Medicine, 2024
38294974 (PubMed )
Supplement: nejmoa2310151_appendix.pdf
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A et al.
Journal of Clinical Medicine, 2020
The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.
Deodato F et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
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