Observational studyOrphanet journal of rare diseases2018
Fabry disease in the Spanish population: observational study with detection of 77 patients.
Observational study in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Optimizing α-galactosidase A enzyme cutoff for Fabry disease screening in chronic kidney disease patients: a single-center reassessment of diagnostic yield and cost-effectiveness.Renal failure · 2025Article
- Multidisciplinary Care Model as a Center of Excellence for Fabry Disease: A Practical Guide to Diagnosis and Management by Clinical Specialty in South Korea.Journal of clinical medicine · 2025Review
- Correlation of enzyme activities and genotype with clinical manifestations in Chinese patients of different sexes with classical and late-onset Fabry disease.Frontiers of medicine · 2025Article
- Exome sequencing of a Portuguese cohort of early-onset Alzheimer's disease implicates the X-linked lysosomal gene GLA.Scientific reports · 2025Article
- Quality of life and unmet needs in patients with fabry disease: a qualitative study.Orphanet journal of rare diseases · 2024Review
- Fabry disease in female monozygotic twins with complex intronic haplotype variants: a case report.BMC medical genomics · 2024Article
- Article
- Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family.Journal of clinical medicine · 2023Article
- Difficulties in Diagnosing Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy (LVH): Is the Novel GLA Gene Mutation a Pathogenic Mutation or Polymorphism?Balkan journal of medical genetics : BJMG · 2023Article
- Modeling of Fabry disease nephropathy using patient derived human induced pluripotent stem cells and kidney organoid system.Journal of translational medicine · 2023Article
- Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.Journal of personalized medicine · 2022Article
- Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.JIMD reports · 2020Article
- Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.Orphanet journal of rare diseases · 2020Observational
- Ratio of Fabry disease in patients with idiopathic left ventricular hypertrophy: A single-center study in Turkey.Anatolian journal of cardiology · 2020Article
- The Prevalence of Fabry Disease Among Turkish Patients with Non-Obstructive Hypertrophic Cardiomyopathy: Insights from a Screening StudyBalkan medical journal · 2019Article
- Fabry disease in a Japanese population-molecular and biochemical characteristics.Molecular genetics and metabolism reports · 2018Article
- Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?International journal of molecular sciences · 2018Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundFabry disease is a multisystemic lysosomal storage disorder caused by the impairment of α-galactosidase A. The incidence of this rare disease is underestimated due to delayed diagnosis. Moreover, the management of the identified subjects is often complicated by the detection of variants of unclear diagnostic interpretation, usually identified in screening studies. We performed an observational study based on biochemical and genetic analysis of 805 dried blood spot samples from patients with clinical symptoms or family history of this pathology, which were collected from 109 Spanish hospitals, all over the country.
resultsWe identified 77 new diagnosed patients with mutations related to classical Fabry disease, as well as 2 subjects with c.374A > T; p.His125Leu, a possible new mutation that need to be confirmed. Additionally, we detected 8 subjects carrying genetic variants possibly linked to late onset Fabry disease (p.Arg118Cys and p.Ala143Thr), 4 cases with polymorphism p.Asp313Tyr and 36 individuals with single nucleotide polymorphisms in intronic regions of GLA. Five of the identified mutations (c.431delG; c.1182delA; c.374A > T; c.932 T > C; c.125 T > A; c.778G > A), which were associated with a classical phenotype have not been previously described. Moreover 3 subjects presenting complex haplotypes made up by the association of intronic variants presented impaired levels of GLA transcripts and Gb3 deposits in skin biopsy.
conclusionsEnzymatic screening for Fabry Disease in risk population (2 or more clinical manifestations or family history of the disease) helped to identify undiagnosed patients and unravel the impairment of GLA expression in some subjects with complex haplotypes.
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