Associated Papers
Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism.
Sitarska D et al.
Metabolic Brain Disease, 2019
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.
Polese-Bonatto M et al.
Molecular Neurobiology, 2019
Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
Kluska A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2019
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