GLA insufficiency should not be called Fabry disease
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Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41431-024-01657-0.pdf
Reference9 articles.
1. Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, et al. A genome-wide mutational constraint map quantified from variation in 76,156 human genomes. Nature. 2024;625:92–100.
2. Riillo C, Bonapace G, Moricca MT, Sestito S, Salatino A, Concolino D. c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: possible relevance in the pathogenesis of late-onset forms of Fabry disease. Mol Genet Metab. 2023;140:107700.
3. van der Veen SJ, Sayed ME, Hollak CEM, Brands MM, Snelder CKS, Boekholdt SM, et al. Early risk stratification for natural disease course in Fabry patients using plasma globotriaosylsphingosine levels. Clin J Am Soc Nephrol. 2023;18:1272–82.
4. Viall S, Dennis A, Yang A. Newborn screening for Fabry disease in oregon: approaching the iceberg of A143T and variants of uncertain significance. Am J Med Genet C Semin Med Genet. 2022;190:206–14.
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1. Establishing Treatment Effectiveness in Fabry Disease: Observation-Based Recommendations for Improvement;International Journal of Molecular Sciences;2024-09-09
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