A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient
about
Sustained normalization of neurological disease after intracranial gene therapy in a feline model.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.Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosisChemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.
P2860
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient
description
1992 nî lūn-bûn
@nan
1992 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
A homozygous missense arginine ...... ile GM1-gangliosidosis patient
@ast
A homozygous missense arginine ...... ile GM1-gangliosidosis patient
@en
A homozygous missense arginine ...... ile GM1-gangliosidosis patient
@nl
type
label
A homozygous missense arginine ...... ile GM1-gangliosidosis patient
@ast
A homozygous missense arginine ...... ile GM1-gangliosidosis patient
@en
A homozygous missense arginine ...... ile GM1-gangliosidosis patient
@nl
prefLabel
A homozygous missense arginine ...... ile GM1-gangliosidosis patient
@ast
A homozygous missense arginine ...... ile GM1-gangliosidosis patient
@en
A homozygous missense arginine ...... ile GM1-gangliosidosis patient
@nl
P2093
P356
P1433
P1476
A homozygous missense arginine ...... ile GM1-gangliosidosis patient
@en
P2093
C Danesino
E Gianazza
G Tubiello
M Piantanida
P2888
P304
P356
10.1007/BF00220071
P407
P577
1992-11-01T00:00:00Z
P6179
1033073918