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Kidney International, ISSN 0085-2538, 05/2003, Volume 63, Issue S84, pp. S181 - S185
Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of the enzyme α-galactosidase A (α-Gal A). The lack of α-Gal A causes an... 
clinical trial | Fabry disease | lysosomal storage disease | genetic disorders | Clinical trial | Genetic disorders | Lysosomal storage disease | STRAIN-RATE | SAFETY | CARDIOMYOPATHY | ATYPICAL VARIANT | TRIAL | HUMAN ALPHA-GALACTOSIDASE | UROLOGY & NEPHROLOGY | MICE | ENZYME REPLACEMENT THERAPY | GLOBOTRIAOSYLCERAMIDE | MANIFESTATIONS | Fabry Disease - diagnosis | Humans | Fabry Disease - therapy
Journal Article
Survey of Ophthalmology, ISSN 0039-6257, 2008, Volume 53, Issue 4, pp. 416 - 423
Abstract Fabry disease is a rare, life-threatening, and under-diagnosed disease, with distinctive ocular manifestations identifiable during a routine eye... 
Ophthalmology | Fabry disease | lens opacities | lysosomal enzyme | cornea verticillata | SAFETY | PREVALENCE | LYSOSOMAL STORAGE DISORDERS | REVERSAL | RETINAL ARTERY-OCCLUSION | TRIAL | CLINICAL-MANIFESTATIONS | OPHTHALMOLOGY | COHORT | ENZYME REPLACEMENT THERAPY | ALPHA-GALACTOSIDASE | Fabry Disease - diagnosis | Humans | Eye Diseases - diagnosis | Enzymes
Journal Article
Kidney International, ISSN 0085-2538, 09/2016, Volume 91, Issue 2, pp. 284 - 293
Journal Article
Noropsikiyatri Arsivi, ISSN 1300-0667, 09/2018, Volume 55, Issue 3, pp. 291 - 292
[...]the patient was referred to the department of nephrology, and administered enzyme replacement therapy (ERT) with agalsidase-ß. FD may cause arrhythmias,... 
CLINICAL NEUROLOGY | MANIFESTATIONS | Stroke (Disease) | Case studies | Development and progression | Care and treatment | Fabry's disease | Enzymes | Stroke | Cardiomyopathy | Conflicts of interest | Family medical history | Mutation | Medical diagnosis | Medical screening | Patients
Journal Article
Lancet, The, ISSN 0140-6736, 2008, Volume 372, Issue 9647, pp. 1427 - 1435
Summary Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase A.... 
Internal Medicine | alpha-Galactosidase - genetics | alpha-Galactosidase - therapeutic use | Fabry Disease - epidemiology | Humans | Sex Factors | Fabry Disease - physiopathology | Female | Male | alpha-Galactosidase - metabolism | Fabry Disease - therapy | Fabry Disease - diagnosis | Care and treatment | Genetic aspects | Diagnosis | Fabry's disease | Risk factors
Journal Article
Lancet, The, ISSN 0140-6736, 2012, Volume 379, Issue 9813, pp. 335 - 341
Journal Article
Journal Article
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance, ISSN 1097-6647, 2014, Volume 16, Issue 1, pp. 99 - 99
Journal Article