Fabry disease
SaudiVarKB evidence summary derived from retained literature mentions.
18Phenotype mentions
18Publications
6Associated gene records
5Associated variant records
Associated gene records
Co-mentioned in the same publicationsAssociated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| p.Ala352Gly | p.Ala352Gly | 1 | 1 |
| G20210A | G20210A | 1 | 1 |
| N215S | N215S | 1 | 1 |
| p.Pro205Ala | p.Pro205Ala | 1 | 1 |
| R112L | R112L | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 2 | 2 |
| Population record | Cohort 2,068 | 1 | 1 |
| Population record | Cohort 404 | 1 | 1 |
| Population record | Cohort 62 | 1 | 1 |
| Population record | Cohort 15 | 1 | 1 |
| Population record | Cohort 42 | 1 | 1 |
| Saudi Arabia | Cohort 619 | 1 | 1 |
| Population record | Cohort 88 | 1 | 1 |
| Saudi Arabia | Cohort 51 | 1 | 1 |
Supporting publications
18 records- 2026Impact of enzyme replacement therapy on hearing sensitivity in Fabry disease: A systematic review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery1 mentions
- 2026Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease.Genetics in medicine open1 mentions
- 2026Signal Peptide Engineering and Codon Optimization to Enhance α-Gal A Activity for rAAV Gene Therapy of Fabry Disease.Journal of inherited metabolic disease1 mentions
- 2026Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.BMC cardiovascular disorders1 mentions
- 2025Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.Indian journal of clinical biochemistry : IJCB1 mentions
- 2024Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.Cardiovascular diagnosis and therapy1 mentions
- 2024Experts' Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective.Therapeutics and clinical risk management1 mentions
- 2023Asn215Ser, Ala143Thr, and Arg112Cys variants in α-galactosidase A protein confer stability loss in Fabry's disease.Journal of biomolecular structure & dynamics1 mentions
- 2023The Relationship between Serum TWEAK Levels and Carotid Intima-media Thickness in Patients with Fabry Disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2021The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.Molecular genetics & genomic medicine1 mentions
- 2020The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease.Clinica chimica acta; international journal of clinical chemistry1 mentions
- 2020Screening for Fabry disease among 619 hemodialysis patients in Saudi Arabia.Saudi medical journal1 mentions
- 2020The Prevalence of Fabry Disease Among Young Cryptogenic Stroke Patients.Cureus1 mentions
- 2019Diagnosis and treatment of the cardiovascular consequences of Fabry disease.QJM : monthly journal of the Association of Physicians1 mentions
- 2018Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease.Journal of inherited metabolic disease1 mentions
- 2017A novel mutation and in vivo confocal microscopic findings in Fabry disease.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2008Genetics of ischemic stroke.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2003Fabry kidney disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions