Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene
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Embolic Strokes of Unknown Source and Cryptogenic Stroke: Implications in Clinical PracticeThe Molecular Basis of Pharmacological Chaperoning in Human α-GalactosidaseStructural hot spots for the solubility of globular proteins.Effects of enzyme replacement therapy in adult patients with Fabry disease on cardiac structure and function: a retrospective cohort study of the Fabry Munster Study (FaMuS) dataSmall-fibre neuropathy in female Fabry patients: reduced allodynia and skin blood flow after topical capsaicin.Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.Structure-function relationships in alpha-galactosidase A.Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.Twenty novel mutations in the alpha-galactosidase A gene causing Fabry diseaseOn the design of broad based screening assays to identify potential pharmacological chaperones of protein misfolding diseasesPrevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAEEndothelial nitric oxide synthase uncoupling and microvascular dysfunction in the mesentery of mice deficient in α-galactosidase A.Fabry's disease: an example of cardiorenal syndrome type 5.Is it Fabry disease?Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.SSCP analysis of paraffin wax embedded tissues in a family with an atypical form of Fabry diseaseA mutation in the 5' untranslated region of the human alpha-galactosidase A gene in high-activity variants inhibits specific protein binding.Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility.α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomicsThe proteolipid protein gene: double, double, ... and trouble.Determination of globotriaosylceramide in plasma and urine by mass spectrometry.Co-existence of lysosomal storage diseases in a consanguineous family.Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice.Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.Characterization of Human Dermal Fibroblasts in Fabry Disease.Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.Fabry disease
P2860
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P2860
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene
description
1994 nî lūn-bûn
@nan
1994 թուականին հրատարակուած գիտական յօդուած
@hyw
1994 թվականին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Molecular basis of Fabry disea ...... man alpha-galactosidase A gene
@ast
Molecular basis of Fabry disea ...... man alpha-galactosidase A gene
@en
Molecular basis of Fabry disea ...... man alpha-galactosidase A gene
@en-gb
Molecular basis of Fabry disea ...... man alpha-galactosidase A gene
@nl
type
label
Molecular basis of Fabry disea ...... man alpha-galactosidase A gene
@ast
Molecular basis of Fabry disea ...... man alpha-galactosidase A gene
@en
Molecular basis of Fabry disea ...... man alpha-galactosidase A gene
@en-gb
Molecular basis of Fabry disea ...... man alpha-galactosidase A gene
@nl
prefLabel
Molecular basis of Fabry disea ...... man alpha-galactosidase A gene
@ast
Molecular basis of Fabry disea ...... man alpha-galactosidase A gene
@en
Molecular basis of Fabry disea ...... man alpha-galactosidase A gene
@en-gb
Molecular basis of Fabry disea ...... man alpha-galactosidase A gene
@nl
P3181
P356
P1433
P1476
Molecular basis of Fabry disea ...... man alpha-galactosidase A gene
@en
P2093
P304
P3181
P356
10.1002/HUMU.1380030204
P407
P577
1994-01-01T00:00:00Z