Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Timothy M Cox

Showing results (61-70 of 117) with videos related to

Pageof 12
Sort By:
Hepatology (Baltimore, Md.)|November 26, 2009
Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutationWilliam J H Griffiths, Roman Mayr, Ian McFarlane, et al.
Blood Cells, Molecules & Diseases|October 30, 2016
Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patientsMaciej Machaczka, Martin Paucar, Cecilia Kämpe Björkvall, et al.
Blood|November 25, 2003
Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)Antonella Roetto, Filomena Daraio, Paolo Porporato, et al.
Journal of Clinical Medicine|May 13, 2023
The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). <i>J. Clin. Med.</i> 2022, <i>11</i>, 5158Pramod K Mistry, Priya S Kishnani, Manisha Balwani, et al.
Orphanet Journal of Rare Diseases|June 18, 2022
Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher diseaseAimee Donald, Cecilia Kämpe Björkvall, Ashok Vellodi, et al.
Methods in Molecular Biology (Clifton, N.J.)|August 4, 2010
Imaging MALDI mass spectrometry of sphingolipids using an oscillating capillary nebulizer matrix application systemYanfeng Chen, Ying Liu, Jeremy Allegood, et al.
Journal of Clinical Medicine|February 13, 2019
Splenic Artery Aneurysms, A Rare Complication of Type 1 Gaucher Disease: Report of Five CasesChristine Serratrice, Timothy M Cox, Vanessa Leguy-Seguin, et al.
Analytical Chemistry|March 5, 2008
Imaging MALDI mass spectrometry using an oscillating capillary nebulizer matrix coating system and its application to analysis of lipids in brain from a mouse model of Tay-Sachs/Sandhoff diseaseYanfeng Chen, Jeremy Allegood, Ying Liu, et al.
Metabolites|January 5, 2021
Decrease in Myelin-Associated Lipids Precedes Neuronal Loss and Glial Activation in the CNS of the Sandhoff Mouse as Determined by MetabolomicsEmmanuelle Lecommandeur, Maria Begoña Cachón-González, Susannah Boddie, et al.
Blood Cells, Molecules & Diseases|November 16, 2010
Potential biomarkers of osteonecrosis in Gaucher diseaseElena V Pavlova, Patrick B Deegan, Jane Tindall, et al.
Pageof 12

Showing results (61-70 of 117) with videos related to

Sort By:
Pageof 12
Hepatology (Baltimore, Md.)|November 26, 2009
Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutationWilliam J H Griffiths, Roman Mayr, Ian McFarlane, et al.
Blood Cells, Molecules & Diseases|October 30, 2016
Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patientsMaciej Machaczka, Martin Paucar, Cecilia Kämpe Björkvall, et al.
Blood|November 25, 2003
Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)Antonella Roetto, Filomena Daraio, Paolo Porporato, et al.
Journal of Clinical Medicine|May 13, 2023
The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). <i>J. Clin. Med.</i> 2022, <i>11</i>, 5158Pramod K Mistry, Priya S Kishnani, Manisha Balwani, et al.
Orphanet Journal of Rare Diseases|June 18, 2022
Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher diseaseAimee Donald, Cecilia Kämpe Björkvall, Ashok Vellodi, et al.
Methods in Molecular Biology (Clifton, N.J.)|August 4, 2010
Imaging MALDI mass spectrometry of sphingolipids using an oscillating capillary nebulizer matrix application systemYanfeng Chen, Ying Liu, Jeremy Allegood, et al.
Journal of Clinical Medicine|February 13, 2019
Splenic Artery Aneurysms, A Rare Complication of Type 1 Gaucher Disease: Report of Five CasesChristine Serratrice, Timothy M Cox, Vanessa Leguy-Seguin, et al.
Analytical Chemistry|March 5, 2008
Imaging MALDI mass spectrometry using an oscillating capillary nebulizer matrix coating system and its application to analysis of lipids in brain from a mouse model of Tay-Sachs/Sandhoff diseaseYanfeng Chen, Jeremy Allegood, Ying Liu, et al.
Metabolites|January 5, 2021
Decrease in Myelin-Associated Lipids Precedes Neuronal Loss and Glial Activation in the CNS of the Sandhoff Mouse as Determined by MetabolomicsEmmanuelle Lecommandeur, Maria Begoña Cachón-González, Susannah Boddie, et al.
Blood Cells, Molecules & Diseases|November 16, 2010
Potential biomarkers of osteonecrosis in Gaucher diseaseElena V Pavlova, Patrick B Deegan, Jane Tindall, et al.
Pageof 12