Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.
about
Fabry disease: recent advances in pathology, diagnosis, treatment and monitoringCryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative studyCarpal tunnel syndrome in fabry disease.Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry MiceReduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry DiseaseInterleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutationLysosomal delivery of therapeutic enzymes in cell models of Fabry disease.Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations.Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice.Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease)Fabry disease: is there a role for enzyme replacement therapy?Fabry disease
P2860
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P2860
Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Replacement of alpha-galactosi ...... d tissues of treated patients.
@en
Replacement of alpha-galactosi ...... d tissues of treated patients.
@nl
type
label
Replacement of alpha-galactosi ...... d tissues of treated patients.
@en
Replacement of alpha-galactosi ...... d tissues of treated patients.
@nl
prefLabel
Replacement of alpha-galactosi ...... d tissues of treated patients.
@en
Replacement of alpha-galactosi ...... d tissues of treated patients.
@nl
P2860
P50
P1433
P1476
Replacement of alpha-galactosi ...... ed tissues of treated patients
@en
P2093
Jana Keslová-Veselíková
Milan Elleder
P2860
P2888
P304
P356
10.1007/S00428-008-0586-9
P50
P577
2008-03-20T00:00:00Z
P5875
P6179
1050762391