Search research articles
Contact Us
Filters
Showing results (71-80 of 81) with videos related to
Page
of 9
Sort By:
Journal of Medical Genetics
|
March 22, 2015
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
Dominique P Germain, Joel Charrow, Robert J Desnick, 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 trial
Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, 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 Registry
Dominique P Germain, Frank Weidemann, Ademola Abiose, et al.
Molecular Genetics and Metabolism
|
April 17, 2019
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial
Uma Ramaswami, Daniel G Bichet, Lorne A Clarke, et al.
Molecular Genetics and Metabolism
|
August 14, 2012
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec
Jean Larochelle, Fernando Alvarez, Jean-François Bussières, et al.
Seminars in Hematology
|
October 7, 2004
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients
Neal J Weinreb, Mario C Aggio, Hans C Andersson, et al.
Human Mutation
|
July 12, 2016
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma
Patrick R Blackburn, Raymond D Hickey, Rebecca A Nace, et al.
American Journal of Human Genetics
|
September 24, 2013
Actionable, pathogenic incidental findings in 1,000 participants' exomes
Michael O Dorschner, Laura M Amendola, Emily H Turner, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
October 30, 2012
Research progress reported at the 50th Anniversary of the Discovery of Congenital Sucrase-Isomaltase Deficiency Workshop
Mark Gilger, Bruce Hamaker, Buford L Nichols, et al.
The New England Journal of Medicine
|
August 11, 2016
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat
Dominique P Germain, Derralynn A Hughes, Kathleen Nicholls, et al.
Page
of 9
Search research articles
Search
Showing results (71-80 of 81) with videos related to
Sort By:
Page
of 9
Journal of Medical Genetics
|
March 22, 2015
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
Dominique P Germain, Joel Charrow, Robert J Desnick, 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 trial
Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, 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 Registry
Dominique P Germain, Frank Weidemann, Ademola Abiose, et al.
Molecular Genetics and Metabolism
|
April 17, 2019
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial
Uma Ramaswami, Daniel G Bichet, Lorne A Clarke, et al.
Molecular Genetics and Metabolism
|
August 14, 2012
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec
Jean Larochelle, Fernando Alvarez, Jean-François Bussières, et al.
Seminars in Hematology
|
October 7, 2004
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients
Neal J Weinreb, Mario C Aggio, Hans C Andersson, et al.
Human Mutation
|
July 12, 2016
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma
Patrick R Blackburn, Raymond D Hickey, Rebecca A Nace, et al.
American Journal of Human Genetics
|
September 24, 2013
Actionable, pathogenic incidental findings in 1,000 participants' exomes
Michael O Dorschner, Laura M Amendola, Emily H Turner, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
October 30, 2012
Research progress reported at the 50th Anniversary of the Discovery of Congenital Sucrase-Isomaltase Deficiency Workshop
Mark Gilger, Bruce Hamaker, Buford L Nichols, et al.
The New England Journal of Medicine
|
August 11, 2016
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat
Dominique P Germain, Derralynn A Hughes, Kathleen Nicholls, et al.
Page
of 9