title: Central nervous system therapy for lysosomal storage disorders.
abstract: Most lysosomal storage disorders are characterized by progressive central nervous system impairment, with or without systemic involvement. Affected individuals have an array of symptoms related to brain dysfunction, the most devastating of which is neurodegeneration following a period of normal development. The blood-brain barrier has represented a significant impediment to developing therapeutic approaches to treat brain disease, but novel approaches-including enzyme replacement, small-molecule, gene, and cell-based therapies-have given children afflicted by these conditions and those who care for them hope for the future.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, USA. greg.enns@stanford.edu
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Enns
authors.forename: Stephen L
authors.initials: SL
authors.lastname: Huhn
mesh_terms: D000818:Animals; D064987:Cell- and Tissue-Based Therapy / Q000379:methods; D002490:Central Nervous System / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology* / Q000601:surgery; D015316:Genetic Therapy / Q000379:methods; D006801:Humans; D006867:Hydrolases / Q000627:therapeutic use; D020140:Lysosomal Storage Diseases, Nervous System / Q000473:pathology* / Q000628:therapy*; D008247:Lysosomes / Q000201:enzymology / Q000235:genetics / Q000473:pathology
chemical_list: D006867:Hydrolases