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Timothy M Cox

Showing results (91-100 of 117) with videos related to

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Blood|February 26, 2004
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosisCarmela Lanzara, Antonella Roetto, Filomena Daraio, et al.
Haematologica|July 10, 2012
Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomesLaura van Dussen, Timothy M Cox, Erik J Hendriks, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2025
Venglustat in GM2 gangliosidoses and related disorders: Results of the AMETHIST randomized controlled and basket trialsCynthia J Tifft, Isabela Batsu, Roberto Giugliani, et al.
European Journal of Internal Medicine|August 15, 2016
Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in EuropeNadia Belmatoug, Maja Di Rocco, Cristina Fraga, et al.
Brain : a Journal of Neurology|October 18, 2022
Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trialRaphael Schiffmann, Timothy M Cox, Jean-François Dedieu, et al.
Human Mutation|September 25, 2022
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33AElena V Pavlova, Dorit Lev, Marina Michelson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 23, 2009
A validated disease severity scoring system for adults with type 1 Gaucher diseaseNeal J Weinreb, Maria D Cappellini, Timothy M Cox, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 6, 2023
Gaucher disease protects against tuberculosisJingwen Fan, Victoria L Hale, Lindsey T Lelieveld, et al.
Cells|November 27, 2021
L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR ModulationBeatriz Castejón-Vega, Alejandro Rubio, Antonio J Pérez-Pulido, et al.
The Journal of Clinical Investigation|February 11, 2025
Safety and efficacy of pharmacological inhibition of ketohexokinase in hereditary fructose intoleranceEvi Jc Koene, Amée M Buziau, David Cassiman, et al.
Pageof 12

Showing results (91-100 of 117) with videos related to

Sort By:
Pageof 12
Blood|February 26, 2004
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosisCarmela Lanzara, Antonella Roetto, Filomena Daraio, et al.
Haematologica|July 10, 2012
Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomesLaura van Dussen, Timothy M Cox, Erik J Hendriks, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2025
Venglustat in GM2 gangliosidoses and related disorders: Results of the AMETHIST randomized controlled and basket trialsCynthia J Tifft, Isabela Batsu, Roberto Giugliani, et al.
European Journal of Internal Medicine|August 15, 2016
Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in EuropeNadia Belmatoug, Maja Di Rocco, Cristina Fraga, et al.
Brain : a Journal of Neurology|October 18, 2022
Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trialRaphael Schiffmann, Timothy M Cox, Jean-François Dedieu, et al.
Human Mutation|September 25, 2022
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33AElena V Pavlova, Dorit Lev, Marina Michelson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 23, 2009
A validated disease severity scoring system for adults with type 1 Gaucher diseaseNeal J Weinreb, Maria D Cappellini, Timothy M Cox, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 6, 2023
Gaucher disease protects against tuberculosisJingwen Fan, Victoria L Hale, Lindsey T Lelieveld, et al.
Cells|November 27, 2021
L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR ModulationBeatriz Castejón-Vega, Alejandro Rubio, Antonio J Pérez-Pulido, et al.
The Journal of Clinical Investigation|February 11, 2025
Safety and efficacy of pharmacological inhibition of ketohexokinase in hereditary fructose intoleranceEvi Jc Koene, Amée M Buziau, David Cassiman, et al.
Pageof 12