<p>(A) Age at diagnosis for males <i>N215S</i> (n = 37), males <i>non-N215S</i> (n = 58) and females <i>N215S</i> (n = 47), females <i>non-N215S</i> (n = 109). (B) Age at symptom onset for males <i>N215S</i> (n = 24), males <i>non-N215S</i> (n = 53) and females <i>N215S</i> (n = 14), females <i>non-N215S</i> (n = 59); ns = not significant.</p
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Fabry disease (...
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Fabry disease (...
Fabry disease is a lysosomal storage disorder with an X-linked pattern of inheritance. Fabry disease...
<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...
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by <i>N215S</i> mutation...
<p>Correlation analyses: red = females; blue = males: (A) Glomerular filtration rate (GFR) and plasm...
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...
Fabry disease is an X linked illness caused by mutation in the GLA gene which codes lysosomal enzyme...
The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry ...
Fabry disease leads to renal, cardiac, and cerebrovascular manifestations. Phenotypic differences be...
João Paulo Oliveira,1,2,3 Susana Ferreira1,3 1Department of Genetics, Faculty of Medicine, Un...
<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)...
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Fabry disease (...
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Fabry disease (...
Fabry disease is a lysosomal storage disorder with an X-linked pattern of inheritance. Fabry disease...
<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...
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by <i>N215S</i> mutation...
<p>Correlation analyses: red = females; blue = males: (A) Glomerular filtration rate (GFR) and plasm...
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...
Fabry disease is an X linked illness caused by mutation in the GLA gene which codes lysosomal enzyme...
The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry ...
Fabry disease leads to renal, cardiac, and cerebrovascular manifestations. Phenotypic differences be...
João Paulo Oliveira,1,2,3 Susana Ferreira1,3 1Department of Genetics, Faculty of Medicine, Un...
<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)...
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Fabry disease (...
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Fabry disease (...
Fabry disease is a lysosomal storage disorder with an X-linked pattern of inheritance. Fabry disease...