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

JIMD reports

Showing results (111-120 of 1,270) with videos related to

Pageof 127
Sort By:
JIMD Reports|June 27, 2019
The genetic and biochemical basis of trimethylaminuria in an Irish cohortSamantha Doyle, James J O'Byrne, Mandy Nesbitt, et al.
JIMD Reports|January 21, 2021
Ketogenic diet in a patient with refractory status epilepticus due to <i>POLG</i> mutationMiriam Koessler, Edda Haberlandt, Daniela Karall, et al.
JIMD Reports|January 21, 2021
Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complicationNour Elkhateeb, Anupam Chakrapani, James Davison, et al.
JIMD Reports|January 21, 2021
Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?Patrick Forny, Patricie Burda, Peter Bode, et al.
JIMD Reports|January 21, 2021
Normal reference ranges for urinary δ-aminolevulinic acid and porphobilinogen levelsSagar Agarwal, Bahru Habtemarium, Yuanxin Xu, et al.
JIMD Reports|January 21, 2021
Outcomes of patients with cobalamin C deficiency: A single center experienceDanielle K Bourque, Lizbeth E Mellin-Sanchez, Garrett Bullivant, et al.
JIMD Reports|September 10, 2019
Iron-sulfur cluster ISD11 deficiency (<i>LYRM4</i> gene) presenting as cardiorespiratory arrest and 3-methylglutaconic aciduriaMargarida Paiva Coelho, Joana Correia, Aureliano Dias, et al.
JIMD Reports|September 10, 2019
Transiently elevated plasma methionine, <i>S</i>-adenosylmethionine and <i>S</i>-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylationCaitlin A Chang, Xing-Chang Wei, Steven R Martin, et al.
JIMD Reports|September 10, 2019
Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitizationMichelle F Huffaker, Anne Y Liu, Gregory M Enns, et al.
JIMD Reports|September 10, 2019
Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responsesEmmanuel Scalais, Elise Osterheld, Christine Geron, et al.
Pageof 127

Showing results (111-120 of 1,270) with videos related to

Sort By:
Pageof 127
JIMD Reports|June 27, 2019
The genetic and biochemical basis of trimethylaminuria in an Irish cohortSamantha Doyle, James J O'Byrne, Mandy Nesbitt, et al.
JIMD Reports|January 21, 2021
Ketogenic diet in a patient with refractory status epilepticus due to <i>POLG</i> mutationMiriam Koessler, Edda Haberlandt, Daniela Karall, et al.
JIMD Reports|January 21, 2021
Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complicationNour Elkhateeb, Anupam Chakrapani, James Davison, et al.
JIMD Reports|January 21, 2021
Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?Patrick Forny, Patricie Burda, Peter Bode, et al.
JIMD Reports|January 21, 2021
Normal reference ranges for urinary δ-aminolevulinic acid and porphobilinogen levelsSagar Agarwal, Bahru Habtemarium, Yuanxin Xu, et al.
JIMD Reports|January 21, 2021
Outcomes of patients with cobalamin C deficiency: A single center experienceDanielle K Bourque, Lizbeth E Mellin-Sanchez, Garrett Bullivant, et al.
JIMD Reports|September 10, 2019
Iron-sulfur cluster ISD11 deficiency (<i>LYRM4</i> gene) presenting as cardiorespiratory arrest and 3-methylglutaconic aciduriaMargarida Paiva Coelho, Joana Correia, Aureliano Dias, et al.
JIMD Reports|September 10, 2019
Transiently elevated plasma methionine, <i>S</i>-adenosylmethionine and <i>S</i>-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylationCaitlin A Chang, Xing-Chang Wei, Steven R Martin, et al.
JIMD Reports|September 10, 2019
Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitizationMichelle F Huffaker, Anne Y Liu, Gregory M Enns, et al.
JIMD Reports|September 10, 2019
Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responsesEmmanuel Scalais, Elise Osterheld, Christine Geron, et al.
Pageof 127