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American Journal of Medical Genetics. Part A|October 14, 2003
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome regionColleen A Morris, Carolyn B Mervis, Holly H Hobart, et al.
Molecular Genetics and Metabolism|December 8, 2022
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension studyPatrick B Deegan, Ozlem Goker-Alpan, Tarekegn Geberhiwot, et al.
American Journal of Human Genetics|April 28, 2015
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A DysfunctionK Nicole Weaver, Kristin E Noack Watt, Robert B Hufnagel, et al.
Molecular Genetics and Metabolism|May 26, 2023
Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry communityChristoph Wanner, Alberto Ortiz, William R Wilcox, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 10, 2015
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screeningDerek Wong, Silvia Tortorelli, Lisa Bishop, et al.
Plos One|May 9, 2015
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trialFrits A Wijburg, Bernard Bénichou, Daniel G Bichet, et al.
Brain Research. Molecular Brain Research|December 8, 2004
Human blood genomics: distinct profiles for gender, age and neurofibromatosis type 1Yang Tang, Aigang Lu, Ruiqiong Ran, et al.
Journal of Medical Genetics|March 20, 2016
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry RegistryAlberto Ortiz, Ademola Abiose, Daniel G Bichet, et al.
Molecular Genetics and Metabolism|January 29, 2023
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry RegistryRobert J Hopkin, Gustavo H Cabrera, John L Jefferies, et al.
Therapeutic Advances in Rare Disease|March 2, 2026
Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe diseaseRobert J Hopkin, Barry J Byrne, Mazen M Dimachkie, et al.
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