Associated Papers
Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease.
Avarappattu J et al.
Pediatric Nephrology (berlin, Germany), 2024
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.
Nowak A et al.
Journal of Medical Genetics, 2022
33495303 (PubMed )
Supplement: jmedgenet-2020-107338supp001.pdf
Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients.
Wiest MRJ et al.
Journal of Clinical Medicine, 2021
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.
Yam GH et al.
American Journal of Physiology. Cell Physiology, 2006
16531566 (PubMed )
Supplement: Supplemental20Tables20and20Figures.pdf
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
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