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Timothy M Cox

Showing results (81-90 of 117) with videos related to

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Nature Medicine|January 21, 2014
RIPK3 as a potential therapeutic target for Gaucher's diseaseEinat B Vitner, Ran Salomon, Tamar Farfel-Becker, et al.
Lancet (London, England)|March 31, 2015
Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trialTimothy M Cox, Guillermo Drelichman, Renata Cravo, et al.
Radiology|December 20, 2022
Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher DiseaseSimona D'Amore, Hiroshige Sano, Daniel David George Chappell, et al.
Lancet (London, England)|March 11, 2015
Rare diseases and effective treatments: are we delivering?Lucio Luzzatto, Carla E M Hollak, Timothy M Cox, et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|March 15, 2022
A novel brain-penetrant oral UGT8 inhibitor decreases in vivo galactosphingolipid biosynthesis in murine Krabbe diseaseEva Zaccariotto, María Begoña Cachón-González, Bing Wang, et al.
Neurobiology of Disease|July 21, 2004
Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type CRobin H Lachmann, Danielle te Vruchte, Emyr Lloyd-Evans, et al.
Molecular Genetics and Metabolism Reports|October 11, 2016
Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trialRebecca Pleat, Timothy M Cox, T Andrew Burrow, et al.
Human Molecular Genetics|August 20, 2011
Adeno-associated virus-mediated expression of β-hexosaminidase prevents neuronal loss in the Sandhoff mouse brainTimothy J Sargeant, Susan Wang, Josephine Bradley, et al.
Human Molecular Genetics|May 10, 2019
The lysosomal disease caused by mutant VPS33AElena V Pavlova, Aleksey Shatunov, Lena Wartosch, et al.
Gastroenterology|March 15, 2011
Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overloadRoman Mayr, William J H Griffiths, Martin Hermann, et al.
Pageof 12

Showing results (81-90 of 117) with videos related to

Sort By:
Pageof 12
Nature Medicine|January 21, 2014
RIPK3 as a potential therapeutic target for Gaucher's diseaseEinat B Vitner, Ran Salomon, Tamar Farfel-Becker, et al.
Lancet (London, England)|March 31, 2015
Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trialTimothy M Cox, Guillermo Drelichman, Renata Cravo, et al.
Radiology|December 20, 2022
Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher DiseaseSimona D'Amore, Hiroshige Sano, Daniel David George Chappell, et al.
Lancet (London, England)|March 11, 2015
Rare diseases and effective treatments: are we delivering?Lucio Luzzatto, Carla E M Hollak, Timothy M Cox, et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|March 15, 2022
A novel brain-penetrant oral UGT8 inhibitor decreases in vivo galactosphingolipid biosynthesis in murine Krabbe diseaseEva Zaccariotto, María Begoña Cachón-González, Bing Wang, et al.
Neurobiology of Disease|July 21, 2004
Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type CRobin H Lachmann, Danielle te Vruchte, Emyr Lloyd-Evans, et al.
Molecular Genetics and Metabolism Reports|October 11, 2016
Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trialRebecca Pleat, Timothy M Cox, T Andrew Burrow, et al.
Human Molecular Genetics|August 20, 2011
Adeno-associated virus-mediated expression of β-hexosaminidase prevents neuronal loss in the Sandhoff mouse brainTimothy J Sargeant, Susan Wang, Josephine Bradley, et al.
Human Molecular Genetics|May 10, 2019
The lysosomal disease caused by mutant VPS33AElena V Pavlova, Aleksey Shatunov, Lena Wartosch, et al.
Gastroenterology|March 15, 2011
Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overloadRoman Mayr, William J H Griffiths, Martin Hermann, et al.
Pageof 12