The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.

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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http://www.wikidata.org/entity/Q30874048
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
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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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http://www.wikidata.org/entity/Q30874048
description
2014 nî lūn-bûn
@nan
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
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2014年論文
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2014年論文
@zh-hk
2014年論文
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2014年論文
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2014年论文
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name
The alpha-galactosidase A p.Ar ...... l patients and family studies.
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The alpha-galactosidase A p.Ar ...... l patients and family studies.
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The alpha-galactosidase A p.Ar ...... l patients and family studies.
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The alpha-galactosidase A p.Ar ...... l patients and family studies.
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The alpha-galactosidase A p.Ar ...... l patients and family studies.
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The alpha-galactosidase A p.Ar ...... l patients and family studies.
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The alpha-galactosidase A p.Ar ...... l patients and family studies.
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10.1016/J.YMGME.2014.11.004
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