Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues-Reference-Cited by-同舟云学术

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Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues

Published:2022-12 Issue:4 Volume:137 Page:328-341
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Tøndel Camilla,Thurberg Beth L.,DasMahapatra Pronabesh,Lyn Nicole,Maski Manish,Batista Julie L.,George Kelly,Patel Hiren,Hariri Ali

Funder

Sanofi Genzyme

Sanofi

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference115 articles.

1. Fabry disease;Germain;Orphanet. J. Rare. Dis.,2010

2. High incidence of later-onset fabry disease revealed by newborn screening;Spada;Am. J. Hum. Genet.,2006

3. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria;Mechtler;Lancet.,2012

4. Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry;Scott;J. Pediatr.,2013

5. Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study;Inoue;J. Hum. Genet.,2013

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1. Establishing Treatment Effectiveness in Fabry Disease: Observation-Based Recommendations for Improvement;International Journal of Molecular Sciences;2024-09-09

2. Was ist gesichert in der Therapie von Morbus Fabry?;Die Innere Medizin;2024-08-06

3. Reduction in kidney function decline and risk of severe clinical events in agalsidase beta–treated Fabry disease patients: a matched analysis from the Fabry Registry;Clinical Kidney Journal;2024-07-02

4. Assessing Osteopenia and Osteoporosis with Dual-energy X-ray Absorptiometry Studies in Fabry Disease;2024-07-01

5. Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease;Frontiers in Genetics;2024-04-12

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