GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

Item
http://www.wikidata.org/entity/Q47718417
Transcription factor Bcl11b controls selection of invariant natural killer T-cells by regulating glycolipid presentation in double-positive thymocytesFluorous iminoalditols: a new family of glycosidase inhibitors and pharmacological chaperones.Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity.Candidate molecules for chemical chaperone therapy of GM1-gangliosidosis.Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.Structural basis of pharmacological chaperoning for human β-galactosidase.A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis.β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition
P2860

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

Item
http://www.wikidata.org/entity/Q47718417
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
GM1 gangliosidosis and Morquio ...... te of acid beta-galactosidase.
@en
GM1 gangliosidosis and Morquio ...... te of acid beta-galactosidase.
@nl
type
label
GM1 gangliosidosis and Morquio ...... te of acid beta-galactosidase.
@en
GM1 gangliosidosis and Morquio ...... te of acid beta-galactosidase.
@nl
prefLabel
GM1 gangliosidosis and Morquio ...... te of acid beta-galactosidase.
@en
GM1 gangliosidosis and Morquio ...... te of acid beta-galactosidase.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
GM1 gangliosidosis and Morquio ...... te of acid beta-galactosidase.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698