Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

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http://www.wikidata.org/entity/Q52130159
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry diseaseNeuropathic and cerebrovascular correlates of hearing loss in Fabry diseaseAntisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe DiseaseEnzyme replacement therapy and beyond-in memoriam Roscoe O. Brady, M.D. (1923-2016).Agalsidase alfa--a preparation for enzyme replacement therapy in Anderson-Fabry disease.Structure-function relationships in alpha-galactosidase A.Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.A Novel Frameshift Mutation of Galactosidase-alpha in Fabry Disease Restricted to Dermatologic ManifestationsPerspectives in Pediatric Pathology, Chapter 21. Testicular Pathology in Heritable Metabolic Disease.Fabry's disease: an example of cardiorenal syndrome type 5.Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease.Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy.Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice.Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life.A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease.Fabry disease
P2860

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

Item
http://www.wikidata.org/entity/Q52130159
description
2001 nî lūn-bûn
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2001年の論文
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2001年学术文章
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2001年学术文章
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2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Identification of fifteen nove ...... relationship in Fabry disease.
@en
Identification of fifteen nove ...... relationship in Fabry disease.
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type
label
Identification of fifteen nove ...... relationship in Fabry disease.
@en
Identification of fifteen nove ...... relationship in Fabry disease.
@nl
prefLabel
Identification of fifteen nove ...... relationship in Fabry disease.
@en
Identification of fifteen nove ...... relationship in Fabry disease.
@nl
P1433
P1476
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P433
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P577
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P1433
P1476
Identification of fifteen nove ...... relationship in Fabry disease.
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P2093
P2860
P304
P31
P356
10.1034/J.1399-0004.2001.600107.X
P433
P478
P50
P577
P698