<p>Correlation analyses: (1) Plasma globotriaosylsphingosine (Lyso-Gb3) and plasma α-Gal A activity for males <i>N215S</i> (A; n = 13), males <i>non-N215S</i> (B; n = 9), females <i>N215S</i> (C; n = 25), and females <i>non-N215S</i> (D; n = 36). (2) Age adjusted severity score (AAS) and plasma α-Gal A activity for males <i>N215S</i> (E; n = 36), males <i>non-N215S</i> (F; n = 48), females <i>N215S</i> (G; n = 45), and females <i>non-N215S</i> (H; n = 98); ns = not significant.</p
AbstractBackgroundPrevious studies revealed a high incidence of late-onset Fabry disease mutation, I...
<div><p>Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry dise...
Fabry disease' (FD) phenotype is heterogeneous: alpha-galactosidase A gene mutations (GLA) can lead ...
<p>Correlation analyses: Life time exposure to Lyso-Gb3 ([Lyso-Gb3]*age) and: clinical severity, (MS...
<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...
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...
<p>The horizontal mark indicated the median. It is noteworthy that lyso-Gb3 levels in males are ∼10 ...
Fabry disease (FD), a lysosomal storage disorder caused by α-galactosidase A (GLA) gene variants, ha...
Fabry disease is an X linked illness caused by mutation in the GLA gene which codes lysosomal enzyme...
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)...
AbstractBackgroundPrevious studies revealed a high incidence of late-onset Fabry disease mutation, I...
<div><p>Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry dise...
Fabry disease' (FD) phenotype is heterogeneous: alpha-galactosidase A gene mutations (GLA) can lead ...
<p>Correlation analyses: Life time exposure to Lyso-Gb3 ([Lyso-Gb3]*age) and: clinical severity, (MS...
<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...
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...
<p>The horizontal mark indicated the median. It is noteworthy that lyso-Gb3 levels in males are ∼10 ...
Fabry disease (FD), a lysosomal storage disorder caused by α-galactosidase A (GLA) gene variants, ha...
Fabry disease is an X linked illness caused by mutation in the GLA gene which codes lysosomal enzyme...
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)...
AbstractBackgroundPrevious studies revealed a high incidence of late-onset Fabry disease mutation, I...
<div><p>Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry dise...
Fabry disease' (FD) phenotype is heterogeneous: alpha-galactosidase A gene mutations (GLA) can lead ...