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 (411-420 of 1,250) with videos related to

Pageof 125
Sort By:
JIMD Reports|February 23, 2013
Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1S Balasubramaniam, Y S Choy, A Talib, et al.
JIMD Reports|February 23, 2013
A Novel Mutation in CPT1A Resulting in Hepatic CPT DeficiencyMonique Fontaine, Anne-Frédérique Dessein, Claire Douillard, et al.
JIMD Reports|February 23, 2013
Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findingsHye-Sook Chang, Takako Shibata, Satoshi Arai, et al.
JIMD Reports|February 23, 2013
Cardiac Pathology in Glycogen Storage Disease Type IIIS L Austin, A D Proia, M J Spencer-Manzon, et al.
JIMD Reports|February 23, 2013
Newborn screening for inborn errors of metabolism in mainland china: 30 years of experienceXiao-Tong Shi, Juan Cai, Yuan-Yu Wang, et al.
JIMD Reports|February 23, 2013
The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early InfancyMonique G M de Sain-van der Velden, Piero Rinaldo, Bert Elvers, et al.
JIMD Reports|February 23, 2013
Newborn screening for lysosomal storage disorders in hungaryJudit Wittmann, Eszter Karg, Sàndor Turi, et al.
JIMD Reports|April 25, 2013
Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-MannosidosisElse R Danielsen, Allan M Lund, Carsten Thomsen
JIMD Reports|September 5, 2013
A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic AbnormalitiesRena Papachristoforou, Petros P Petrou, Hilary Sawyer, et al.
JIMD Reports|June 13, 2013
Chronic kidney disease in an adult with propionic acidemiaH J Vernon, S Bagnasco, A Hamosh, et al.
Pageof 125

Showing results (411-420 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|February 23, 2013
Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1S Balasubramaniam, Y S Choy, A Talib, et al.
JIMD Reports|February 23, 2013
A Novel Mutation in CPT1A Resulting in Hepatic CPT DeficiencyMonique Fontaine, Anne-Frédérique Dessein, Claire Douillard, et al.
JIMD Reports|February 23, 2013
Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findingsHye-Sook Chang, Takako Shibata, Satoshi Arai, et al.
JIMD Reports|February 23, 2013
Cardiac Pathology in Glycogen Storage Disease Type IIIS L Austin, A D Proia, M J Spencer-Manzon, et al.
JIMD Reports|February 23, 2013
Newborn screening for inborn errors of metabolism in mainland china: 30 years of experienceXiao-Tong Shi, Juan Cai, Yuan-Yu Wang, et al.
JIMD Reports|February 23, 2013
The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early InfancyMonique G M de Sain-van der Velden, Piero Rinaldo, Bert Elvers, et al.
JIMD Reports|February 23, 2013
Newborn screening for lysosomal storage disorders in hungaryJudit Wittmann, Eszter Karg, Sàndor Turi, et al.
JIMD Reports|April 25, 2013
Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-MannosidosisElse R Danielsen, Allan M Lund, Carsten Thomsen
JIMD Reports|September 5, 2013
A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic AbnormalitiesRena Papachristoforou, Petros P Petrou, Hilary Sawyer, et al.
JIMD Reports|June 13, 2013
Chronic kidney disease in an adult with propionic acidemiaH J Vernon, S Bagnasco, A Hamosh, et al.
Pageof 125