<p>Correlation analyses: red = females; blue = males: (A) Glomerular filtration rate (GFR) and plasma α-Gal A activity for males (n = 36) and females (n = 40). (B) GFR and leukocyte α-Gal A activity for males (n = 15) and females (n = 14). (C) Left ventricular mass indexed to height (LVMI) and plasma α-Gal A activity for males (n = 30) and females (n = 32). (D) LVMI and leukocyte α-Gal A activity for males (n = 14) and females (n = 14); Data shown for <i>N215S</i> group (non-<i>N215S</i>: <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0193550#pone.0193550.s001" target="_blank">S1 Fig</a>); ns = not significant.</p
<p>The horizontal mark indicated the median. It is noteworthy that lyso-Gb3 levels in males are ∼10 ...
Fabry disease is an X linked illness caused by mutation in the GLA gene which codes lysosomal enzyme...
Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the ...
<p>Correlation analyses: (1) Plasma globotriaosylsphingosine (Lyso-Gb3) and plasma α-Gal A activity ...
<p>Correlation analyses: Life time exposure to Lyso-Gb3 ([Lyso-Gb3]*age) and: clinical severity, (MS...
<p>(A) Age at diagnosis for males <i>N215S</i> (n = 37), males <i>non-N215S</i> (n = 58) and females...
Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alp...
<div><p>Background</p><p>Fabry disease (FD) results from X-linked inheritance of a mutation in the G...
The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry ...
João Paulo Oliveira,1,2,3 Susana Ferreira1,3 1Department of Genetics, Faculty of Medicine, Un...
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by <i>N215S</i> mutation...
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...
Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry disease (FD)...
<p>The horizontal mark indicated the median. It is noteworthy that lyso-Gb3 levels in males are ∼10 ...
Fabry disease is an X linked illness caused by mutation in the GLA gene which codes lysosomal enzyme...
Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the ...
<p>Correlation analyses: (1) Plasma globotriaosylsphingosine (Lyso-Gb3) and plasma α-Gal A activity ...
<p>Correlation analyses: Life time exposure to Lyso-Gb3 ([Lyso-Gb3]*age) and: clinical severity, (MS...
<p>(A) Age at diagnosis for males <i>N215S</i> (n = 37), males <i>non-N215S</i> (n = 58) and females...
Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alp...
<div><p>Background</p><p>Fabry disease (FD) results from X-linked inheritance of a mutation in the G...
The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry ...
João Paulo Oliveira,1,2,3 Susana Ferreira1,3 1Department of Genetics, Faculty of Medicine, Un...
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by <i>N215S</i> mutation...
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...
Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry disease (FD)...
<p>The horizontal mark indicated the median. It is noteworthy that lyso-Gb3 levels in males are ∼10 ...
Fabry disease is an X linked illness caused by mutation in the GLA gene which codes lysosomal enzyme...
Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the ...