Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1.

Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1.

Item
http://www.wikidata.org/entity/Q35056076
Molecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370SCrystal structures of complexes of N-butyl- and N-nonyl-deoxynojirimycin bound to acid beta-glucosidase: insights into the mechanism of chemical chaperone action in Gaucher diseaseIndividualization of long-term enzyme replacement therapy for Gaucher disease.Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy.Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses.Influence of food intake on the pharmacokinetics of miglustat, an inhibitor of glucosylceramide synthase.Storage solutions: treating lysosomal disorders of the brain.Current and emerging therapies for the lysosomal storage disorders.Pharmacotherapeutic strategies using small molecules for the treatment of glycolipid lysosomal storage disorders.Animal models for mucopolysaccharidosis disorders and their clinical relevance.Substrate reduction therapy.Inherited metabolic disorders involving the eye: a clinico-biochemical perspective.Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches.N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.The discovery of medicines for rare diseasesComputerized cognitive testing in patients with type I Gaucher disease: effects of enzyme replacement and substrate reduction.
P2860

Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1.

Item
http://www.wikidata.org/entity/Q35056076
description
2003 nî lūn-bûn
@nan
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Substrate reduction therapy: m ...... s with Gaucher disease type 1.
@ast
Substrate reduction therapy: m ...... s with Gaucher disease type 1.
@en
type
label
Substrate reduction therapy: m ...... s with Gaucher disease type 1.
@ast
Substrate reduction therapy: m ...... s with Gaucher disease type 1.
@en
prefLabel
Substrate reduction therapy: m ...... s with Gaucher disease type 1.
@ast
Substrate reduction therapy: m ...... s with Gaucher disease type 1.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Substrate reduction therapy: m ...... s with Gaucher disease type 1.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698