The unique case of the Niemann-Pick type C cholesterol storage disorder
dc.creator | Klein, A. D. | |
dc.creator | Álvarez Rojas, Alejandra | |
dc.creator | Zanlungo Matsuhiro, Silvana | |
dc.date.accessioned | 2020-01-14T01:29:07Z | |
dc.date.available | 2020-01-14T01:29:07Z | |
dc.date.created | 2020-01-14T01:29:07Z | |
dc.date.issued | 2014 | |
dc.identifier | 1565-4753 | |
dc.identifier | https://repositorio.uc.cl/handle/11534/27498 | |
dc.language | en | |
dc.subject | Cholesterol | |
dc.subject | Diagnostic | |
dc.subject | Lysosomal storage disorders | |
dc.subject | Niemann-Pick type C | |
dc.subject | Therapeutic approaches | |
dc.subject | Amitriptyline | |
dc.subject | Clomipramine | |
dc.subject | Melatonin | |
dc.subject | Carrier protein | |
dc.subject | Glycoprotein | |
dc.subject | Membrane protein | |
dc.subject | NPC1 protein, human | |
dc.subject | NPC2 protein, human | |
dc.subject | Article | |
dc.subject | Ataxia | |
dc.subject | Case report | |
dc.subject | Cataplexy | |
dc.subject | Child | |
dc.subject | Cholesterol storage disease | |
dc.subject | Cytology | |
dc.subject | Dementia | |
dc.subject | Disease course | |
dc.subject | Dysphagia | |
dc.subject | Gaze paralysis | |
dc.subject | Hepatosplenomegaly | |
dc.subject | Human | |
dc.subject | Insomnia | |
dc.subject | Liver injury | |
dc.subject | Lysosome storage disease | |
dc.subject | Mouse | |
dc.subject | Muscle hypotonia | |
dc.subject | Niemann Pick disease | |
dc.subject | Nonhuman | |
dc.subject | Point mutation | |
dc.subject | Preschool child | |
dc.subject | Speech disorder | |
dc.subject | Swallowing | |
dc.subject | Genetics | |
dc.subject | Mutation | |
dc.subject | Review | |
dc.subject | Carrier Proteins | |
dc.subject | Glycoproteins | |
dc.subject | Humans | |
dc.subject | Membrane Glycoproteins | |
dc.subject | Niemann-Pick Disease, Type C | |
dc.title | The unique case of the Niemann-Pick type C cholesterol storage disorder | |
dc.type | artículo |