<p>Correlation analyses: Life time exposure to Lyso-Gb3 ([Lyso-Gb3]*age) and: clinical severity, (MSSI) for: (A) <i>N215S</i> males (n = 13), (B) <i>non-N215S</i> males (n = 9), (C) <i>N215S</i> females (n = 26), and (D) <i>non-N215S</i> females (n = 36); baseline GFR for: (E) <i>N215S</i> males (n = 13), (F) <i>non-N215S</i> males (n = 9), (G) <i>N215S</i> females (n = 26), and (H) <i>non-N215S</i> females (n = 33); LVMI for: (I) <i>N215S</i> males (n = 12), (J) <i>non-N215S</i> males (n = 9), (K) <i>N215S</i> females (n = 23), and (L) <i>non-N215S</i> females (n = 34); ns = not significant.</p
<div><p>Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry dise...
Lyso-globotriaosylsphingosine (lyso-Gb(3)) is a useful biomarker in the diagnosis and monitoring of ...
Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry disease (FD)...
<p>Correlation analyses: (1) Plasma globotriaosylsphingosine (Lyso-Gb3) and plasma α-Gal A activity ...
<p>Correlation analyses: red = females; blue = males: (A) Glomerular filtration rate (GFR) and plasm...
<p>(A) Age at diagnosis for males <i>N215S</i> (n = 37), males <i>non-N215S</i> (n = 58) and females...
<div><p>Background</p><p>Fabry disease (FD) results from X-linked inheritance of a mutation in the G...
Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alp...
<p>The horizontal mark indicated the median. It is noteworthy that lyso-Gb3 levels in males are ∼10 ...
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by <i>N215S</i> mutation...
João Paulo Oliveira,1,2,3 Susana Ferreira1,3 1Department of Genetics, Faculty of Medicine, Un...
AbstractBackgroundPrevious studies revealed a high incidence of late-onset Fabry disease mutation, I...
The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry ...
Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by 	...
Objectives: The severity of Fabry disease is dependent on the type of mutation in the α-galactosidas...
<div><p>Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry dise...
Lyso-globotriaosylsphingosine (lyso-Gb(3)) is a useful biomarker in the diagnosis and monitoring of ...
Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry disease (FD)...
<p>Correlation analyses: (1) Plasma globotriaosylsphingosine (Lyso-Gb3) and plasma α-Gal A activity ...
<p>Correlation analyses: red = females; blue = males: (A) Glomerular filtration rate (GFR) and plasm...
<p>(A) Age at diagnosis for males <i>N215S</i> (n = 37), males <i>non-N215S</i> (n = 58) and females...
<div><p>Background</p><p>Fabry disease (FD) results from X-linked inheritance of a mutation in the G...
Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alp...
<p>The horizontal mark indicated the median. It is noteworthy that lyso-Gb3 levels in males are ∼10 ...
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by <i>N215S</i> mutation...
João Paulo Oliveira,1,2,3 Susana Ferreira1,3 1Department of Genetics, Faculty of Medicine, Un...
AbstractBackgroundPrevious studies revealed a high incidence of late-onset Fabry disease mutation, I...
The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry ...
Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by 	...
Objectives: The severity of Fabry disease is dependent on the type of mutation in the α-galactosidas...
<div><p>Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry dise...
Lyso-globotriaosylsphingosine (lyso-Gb(3)) is a useful biomarker in the diagnosis and monitoring of ...
Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry disease (FD)...