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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 study
Dominique P Germain, Kathy Nicholls, Roberto Giugliani, et al.
Nature Reviews. Nephrology
|
October 22, 2024
International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance)
Elena Levtchenko, Gema Ariceta, Olga Arguedas Flores, et al.
Kidney International Reports
|
March 2, 2026
Association of Kidney Volume With Patient-Reported Outcomes in ADPKD
Jad Fadlallah, Matthew Ho, Muhammad T Hassan, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 24, 2014
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry
Christiane Auray-Blais, Catherine-Marie Blais, Uma Ramaswami, et al.
Diabetologia
|
January 28, 2015
Vasopressin and hydration play a major role in the development of glucose intolerance and hepatic steatosis in obese rats
Christopher Taveau, Catherine Chollet, Ludovic Waeckel, et al.
Frontiers in Medicine
|
September 20, 2023
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
Daniel G Bichet, Robert J Hopkin, Patrício Aguiar, et al.
Human Molecular Genetics
|
October 29, 2004
A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L
Fabrizio de Mattia, Paul J M Savelkoul, Daniel G Bichet, et al.
Canadian Journal of Kidney Health and Disease
|
June 8, 2026
Canadian Society of Nephrology Commentary on the 2025 Kidney Disease Improving Global Outcomes Clinical Practice Guidelines for Autosomal Dominant Polycystic Kidney Disease
Matthew B Lanktree, Nick Ashawasega, Micheli Bevilacqua, et al.
Orphanet Journal of Rare Diseases
|
April 29, 2018
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
Raphael Schiffmann, Daniel G Bichet, Ana Jovanovic, et al.
Journal of Inherited Metabolic Disease
|
July 20, 2024
Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry
Derralynn A Hughes, Gere Sunder-Plassmann, Ana Jovanovic, et al.
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of 15
Search research articles
Search
Showing results (121-130 of 144) with videos related to
Sort By:
Page
of 15
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 study
Dominique P Germain, Kathy Nicholls, Roberto Giugliani, et al.
Nature Reviews. Nephrology
|
October 22, 2024
International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance)
Elena Levtchenko, Gema Ariceta, Olga Arguedas Flores, et al.
Kidney International Reports
|
March 2, 2026
Association of Kidney Volume With Patient-Reported Outcomes in ADPKD
Jad Fadlallah, Matthew Ho, Muhammad T Hassan, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 24, 2014
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry
Christiane Auray-Blais, Catherine-Marie Blais, Uma Ramaswami, et al.
Diabetologia
|
January 28, 2015
Vasopressin and hydration play a major role in the development of glucose intolerance and hepatic steatosis in obese rats
Christopher Taveau, Catherine Chollet, Ludovic Waeckel, et al.
Frontiers in Medicine
|
September 20, 2023
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
Daniel G Bichet, Robert J Hopkin, Patrício Aguiar, et al.
Human Molecular Genetics
|
October 29, 2004
A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L
Fabrizio de Mattia, Paul J M Savelkoul, Daniel G Bichet, et al.
Canadian Journal of Kidney Health and Disease
|
June 8, 2026
Canadian Society of Nephrology Commentary on the 2025 Kidney Disease Improving Global Outcomes Clinical Practice Guidelines for Autosomal Dominant Polycystic Kidney Disease
Matthew B Lanktree, Nick Ashawasega, Micheli Bevilacqua, et al.
Orphanet Journal of Rare Diseases
|
April 29, 2018
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
Raphael Schiffmann, Daniel G Bichet, Ana Jovanovic, et al.
Journal of Inherited Metabolic Disease
|
July 20, 2024
Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry
Derralynn A Hughes, Gere Sunder-Plassmann, Ana Jovanovic, et al.
Page
of 15