Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
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Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry DiseaseIdentification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense MutationsProtein aggregation, misfolding and consequential human neurodegenerative diseases.Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy.In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
P2860
Q28553021-FA117D50-D336-43C5-946F-E1E7CFA7CC56Q36173385-D8842F19-4464-4FED-B95C-7E09EF4C6485Q36213022-8104BA5C-6C9D-42E8-8B19-BDB60330CADFQ39097864-CE025CA0-A1E3-4CE8-BD0A-378ABBB3DB50Q42233423-DB21453F-D3CA-4715-A1DB-CD7FED6E92EEQ47155938-5BE3C12E-296B-4174-BCCE-AD53D0B1F91BQ49497813-9D65BC83-914A-49BD-92CC-B0C91EB324B7Q55258014-12B53F44-978E-4F35-A8AA-874EA09F15EE
P2860
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Functional and Clinical Conseq ...... A Mutations in Fabry Disease.
@en
type
label
Functional and Clinical Conseq ...... A Mutations in Fabry Disease.
@en
prefLabel
Functional and Clinical Conseq ...... A Mutations in Fabry Disease.
@en
P2093
P2860
P356
P1433
P1476
Functional and Clinical Conseq ...... e A Mutations in Fabry Disease
@en
P2093
Anne-Marie Pockrandt
Arndt Rolfs
Claudia Cozma
Nicole Dehn
Sabrina Eichler
Simone Scalia
P2860
P356
10.1002/HUMU.22910
P577
2015-10-27T00:00:00Z