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Kathy Nicholls

Showing results (31-40 of 39) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 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 studyDominique P Germain, Kathy Nicholls, Roberto Giugliani, et al.
Molecular Genetics & Genomic Medicine|April 13, 2018
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry studyDominique P Germain, Eva Brand, Alessandro Burlina, et al.
Plos One|March 9, 2013
Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patientsBrandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 25, 2013
Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry RegistryDominique P Germain, Frank Weidemann, Ademola Abiose, et al.
Plos One|August 8, 2015
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused AgalsidaseDavid G Warnock, Daniel G Bichet, Myrl Holida, et al.
Journal of Inherited Metabolic Disease|March 6, 2019
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 trialRaphael Schiffmann, Ozlem Goker-Alpan, Myrl Holida, et al.
BMC Nephrology|February 3, 2025
Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocolAmali Mallawaarachchi, Hugh McCarthy, Thomas A Forbes, et al.
Journal of the American Society of Nephrology : JASN|October 29, 2014
HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic SyndromeRasheed A Gbadegesin, Adebowale Adeyemo, Nicholas J A Webb, et al.
Kidney International Reports|August 19, 2024
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 YearsKushani Jayasinghe, Erik Biros, Trudie Harris, et al.
Pageof 4

Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 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 studyDominique P Germain, Kathy Nicholls, Roberto Giugliani, et al.
Molecular Genetics & Genomic Medicine|April 13, 2018
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry studyDominique P Germain, Eva Brand, Alessandro Burlina, et al.
Plos One|March 9, 2013
Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patientsBrandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 25, 2013
Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry RegistryDominique P Germain, Frank Weidemann, Ademola Abiose, et al.
Plos One|August 8, 2015
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused AgalsidaseDavid G Warnock, Daniel G Bichet, Myrl Holida, et al.
Journal of Inherited Metabolic Disease|March 6, 2019
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 trialRaphael Schiffmann, Ozlem Goker-Alpan, Myrl Holida, et al.
BMC Nephrology|February 3, 2025
Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocolAmali Mallawaarachchi, Hugh McCarthy, Thomas A Forbes, et al.
Journal of the American Society of Nephrology : JASN|October 29, 2014
HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic SyndromeRasheed A Gbadegesin, Adebowale Adeyemo, Nicholas J A Webb, et al.
Kidney International Reports|August 19, 2024
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 YearsKushani Jayasinghe, Erik Biros, Trudie Harris, et al.
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