ArticleMolecular genetics and metabolism reports2019
Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients.
Article in Molecular genetics and metabolism reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed.
- Clinical and Biochemical Improvement After Switching From Agalsidase Alfa to Beta in a Boy With Classic Fabry Disease: A Case Report.Clinical case reports · 2026Article
- Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.BMC cardiovascular disorders · 2026Article
- The Importance of Early Treatment of Inherited Neuromuscular Conditions.Journal of neuromuscular diseases · 2024Review
- Newborn Screening for Fabry Disease: Current Status of Knowledge.International journal of neonatal screening · 2023Review
- Experimental evidence and clinical implications of Warburg effect in the skeletal muscle of Fabry disease.iScience · 2023Article
- Fabry Disease: Current and Novel Therapeutic Strategies. A Narrative Review.Current neuropharmacology · 2023Review
- Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.Clinical genetics · 2022Review
- Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency.Molecular genetics and metabolism reports · 2021Article
- Oxidative stress biomarkers in Fabry disease: is there a room for them?Journal of neurology · 2020Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease is an X-linked lysosomal storage disorder which often presents with renal, cardiac, gastrointestinal, and nervous system abnormalities. Available enzyme replacement therapies have demonstrated efficacy at significantly reducing elevated biomarkers associated with increased disease activity, while improving the clinical symptoms associated with Fabry disease. In two cases with classical Fabry disease, we demonstrate that the initiation of enzyme replacement therapy prior to the onset of overt clinical disease is well tolerated and effectively reduces elevated biomarkers, mitigating unnecessary organ damage that may occur prior to the onset of clinical manifestations of disease. This proactive approach should be considered as a best-practice management strategy which has the potential to significantly improve health outcomes in patients with classical Fabry patients, particularly in the context of newborn screening for Fabry disease.
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