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

Stephen Cederbaum

Showing results (31-40 of 38) with videos related to

Pageof 4
Sort By:
You have reached the last page of results.This site can display upto 38 results.
Neuroscience Letters|November 25, 2010
Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutationJohn M Ringman, Karen H Gylys, Luis D Medina, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 28, 2015
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infantsSimon A Jones, Vassili Valayannopoulos, Eugene Schneider, et al.
Molecular Genetics and Metabolism|June 29, 2013
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolismKathryn M Camp, Michele A Lloyd-Puryear, Lynne Yao, et al.
Molecular Genetics and Metabolism|March 2, 2010
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders ConsortiumJennifer Seminara, Mendel Tuchman, Lauren Krivitzky, et al.
Brain Communications|March 10, 2023
Characterization of spastic paraplegia in a family with a novel <i>PSEN1</i> mutationJohn M Ringman, Naghmeh Dorrani, Sara Gutiérrez Fernández, et al.
Molecular Genetics and Metabolism|August 23, 2015
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trialsSandesh C S Nagamani, George A Diaz, William Rhead, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorderBrendan Lee, George A Diaz, William Rhead, et al.
Hepatology (Baltimore, Md.)|September 11, 2012
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrateGeorge A Diaz, Lauren S Krivitzky, Masoud Mokhtarani, et al.
Pageof 4

Showing results (31-40 of 38) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
Neuroscience Letters|November 25, 2010
Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutationJohn M Ringman, Karen H Gylys, Luis D Medina, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 28, 2015
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infantsSimon A Jones, Vassili Valayannopoulos, Eugene Schneider, et al.
Molecular Genetics and Metabolism|June 29, 2013
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolismKathryn M Camp, Michele A Lloyd-Puryear, Lynne Yao, et al.
Molecular Genetics and Metabolism|March 2, 2010
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders ConsortiumJennifer Seminara, Mendel Tuchman, Lauren Krivitzky, et al.
Brain Communications|March 10, 2023
Characterization of spastic paraplegia in a family with a novel <i>PSEN1</i> mutationJohn M Ringman, Naghmeh Dorrani, Sara Gutiérrez Fernández, et al.
Molecular Genetics and Metabolism|August 23, 2015
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trialsSandesh C S Nagamani, George A Diaz, William Rhead, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorderBrendan Lee, George A Diaz, William Rhead, et al.
Hepatology (Baltimore, Md.)|September 11, 2012
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrateGeorge A Diaz, Lauren S Krivitzky, Masoud Mokhtarani, et al.
Pageof 4