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JOURNAL OF NEUROLOGY, ISSN 0340-5354, 06/2019, Volume 266, Issue 6, pp. 1332 - 1339
PurposeTo examine dorsal root ganglia and proximal nerve segments in patients carrying the Fabry-related GLA-gene variant p.D313Y in comparison to patients... 
Magnetic resonance neurography | INVOLVEMENT | Fabry disease | CLINICALLY RELEVANT | YOUNG-PATIENTS | Peripheral neuropathy | CLINICAL NEUROLOGY | Neuropathic pain | Dorsal root ganglia | GENE | IN-VIVO | DISEASE | MUTATIONS | PERFUSION | ALPHA-GALACTOSIDASE | D313Y | Spinal nerves | Permeability | Mutation | Females | Ganglia | Sciatic nerve | Fabry's disease
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 2019, Volume 10, p. 60
Fabry disease (FD) is a rare X-linked alpha-galactosidase A (GLA) deficiency, resulting in progressive lysosomal accumulation of globotriaosylceramide (Gb3) in... 
Fabry disease | C.801 + 1G > A | Splicing mutation | GLA | Novel mutation | novel mutation | DEFECT | GENETICS & HEREDITY | splicing mutation | PHENOTYPE | c.801+1G > A | A GENE | VARIANT | D313Y | c.801 + 1G > A
Journal Article
Journal Article
Journal Article
Biochemical Genetics, ISSN 0006-2928, 8/2016, Volume 54, Issue 4, pp. 448 - 456
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal alpha-galactosidase A... 
Human Genetics | Biochemistry, general | Medical Microbiology | Biomedicine | Zoology | Fabry disease | Alpha-galactosidase | MEFV | GLA | FMF |