The unique case of the Niemann-Pick type C cholesterol storage disorder
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Date
2014
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Keywords
Cholesterol, Diagnostic, Lysosomal storage disorders, Niemann-Pick type C, Therapeutic approaches, Amitriptyline, Clomipramine, Melatonin, Carrier protein, Glycoprotein, Membrane protein, NPC1 protein, human, NPC2 protein, human, Article, Ataxia, Case report, Cataplexy, Child, Cholesterol storage disease, Cytology, Dementia, Disease course, Dysphagia, Gaze paralysis, Hepatosplenomegaly, Human, Insomnia, Liver injury, Lysosome storage disease, Mouse, Muscle hypotonia, Niemann Pick disease, Nonhuman, Point mutation, Preschool child, Speech disorder, Swallowing, Genetics, Mutation, Review, Carrier Proteins, Glycoproteins, Humans, Membrane Glycoproteins, Niemann-Pick Disease, Type C