Kathy M. Nicholls
Melbourne, VIC, Australia
Last Updated: 09/26/2026
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Found 27 publications
Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys.
Journal: Orphanet journal of rare diseases
Published: March 12, 2024
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.
Journal: Kidney international reports
Published: March 01, 2024
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: October 30, 2023
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals.
Journal: American journal of human genetics
Published: March 30, 2023
Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study.
Journal: Orphanet journal of rare diseases
Published: January 19, 2023
Corrigendum to "Long-term follow-up of renal function in patients treated with migalastat for Fabry disease" [Bichet et al., MGM Reports; 28 (2021) 100786].
Journal: Molecular genetics and metabolism reports
Published: December 22, 2021
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease.
Journal: Molecular genetics and metabolism reports
Published: July 30, 2021
Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis.
Journal: Drug design, development and therapy
Published: March 07, 2019
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 09, 2018
Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial.
Journal: Journal of inherited metabolic disease
Published: July 23, 2018
Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant.
Journal: JIMD reports
Published: July 22, 2018
Last Updated: 09/26/2026