Structural basis of Fabry disease
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference25 articles.
1. α-N-Acetylgalactosaminidase deficiency: schindler disease;Desnick,2001
2. α-Galactosidase a deficiency: Fabry disease;Desnick,2001
3. Human α-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human α-galactosidase A suggests evolution from a common ancestral gene;Wang;J. Biol. Chem.,1990
4. Safety and efficacy of recombinant human α-galactosidase A—replacement therapy in Fabry’s disease;Eng;N. Engl. J. Med.,2001
5. Enzyme replacement therapy in Fabry disease: a randomized controlled trial;Schiffmann;JAMA,2001
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1. Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype;Molecular Genetics and Metabolism Reports;2024-09
2. Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family;Renal Failure;2024-06-07
3. Fabry disease in W162C mutation: a case report of two patients and a review of literature;BMC Neurology;2024-04-05
4. In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease;Molecular Genetics and Metabolism Reports;2024-03
5. Population Frequency of Undiagnosed Fabry Disease in the General Population;Kidney International Reports;2023-07
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