The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
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Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type SpecificCase report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles.The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense MutationsVariations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease.Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.Is it Fabry disease?Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.Clinical proteomics in kidney disease as an exponential technology: heading towards the disruptive phase.Impact of cysteine variants on the structure, activity, and stability of recombinant human α-galactosidase A.Low frequency of Fabry disease in patients with common heart disease.Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.Perspectives on current recommendations for genetic testing in HCM
P2860
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P2860
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
description
2014 nî lūn-bûn
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2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
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2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
The alpha-galactosidase A p.Ar ...... l patients and family studies.
@ast
The alpha-galactosidase A p.Ar ...... l patients and family studies.
@en
type
label
The alpha-galactosidase A p.Ar ...... l patients and family studies.
@ast
The alpha-galactosidase A p.Ar ...... l patients and family studies.
@en
prefLabel
The alpha-galactosidase A p.Ar ...... l patients and family studies.
@ast
The alpha-galactosidase A p.Ar ...... l patients and family studies.
@en
P2093
P2860
P50
P1476
The alpha-galactosidase A p.Ar ...... l patients and family studies.
@en
P2093
Alberto Ortiz
António Caldeira-Gomes
Diego Garcia
Eduardo Gutiérrez-Rivas
Jesús Egido
Jesús Solera-Garcia
José Antonio García-Robles
José Antonio Herrero
Luis Manuel Salazar-Martín
Maria Fenollar-Cortés
P2860
P304
P356
10.1016/J.YMGME.2014.11.004
P577
2014-11-09T00:00:00Z