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

Gerard T Berry

Showing results (71-80 of 138) with videos related to

Pageof 14
Sort By:
Epilepsia|April 5, 2013
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findingsMarlin Touma, Mugdha Joshi, Meghan C Connolly, et al.
Molecular Genetics and Metabolism|February 6, 2019
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiencyDidem Demirbas, Xiaoping Huang, Vikram Daesety, et al.
Journal of Inherited Metabolic Disease|June 28, 2020
Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemiaBanu Ahtam, Susan E Waisbren, Vera Anastasoaie, et al.
JPEN. Journal of Parenteral and Enteral Nutrition|March 13, 2014
Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and LactationAnn E Wessel, Kris M Mogensen, Frances Rohr, et al.
Molecular Genetics and Metabolism|July 23, 2018
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelinationLance H Rodan, Wanshu Qi, Gregory S Ducker, et al.
Journal of Inherited Metabolic Disease|October 12, 2012
The male reproductive system in classic galactosemia: cryptorchidism and low semen volumeCynthia S Gubbels, Corrine K Welt, John C M Dumoulin, et al.
Journal of Inherited Metabolic Disease|December 7, 2019
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular modelsMinela Haskovic, Ana I Coelho, Jörgen Bierau, et al.
Human Genetics|January 26, 2002
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndromeRené Santer, Sebastian Groth, Martina Kinner, et al.
JIMD Reports|June 27, 2019
Phenotypic variability in deficiency of the α subunit of succinate-CoA ligaseDidem Demirbas, David J Harris, Pamela H Arn, et al.
Journal of Inherited Metabolic Disease|July 27, 2020
A retrospective study of adult patients with noncirrhotic hyperammonemiaAndrew B Stergachis, Kris M Mogensen, Charbel C Khoury, et al.
Pageof 14

Showing results (71-80 of 138) with videos related to

Sort By:
Pageof 14
Epilepsia|April 5, 2013
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findingsMarlin Touma, Mugdha Joshi, Meghan C Connolly, et al.
Molecular Genetics and Metabolism|February 6, 2019
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiencyDidem Demirbas, Xiaoping Huang, Vikram Daesety, et al.
Journal of Inherited Metabolic Disease|June 28, 2020
Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemiaBanu Ahtam, Susan E Waisbren, Vera Anastasoaie, et al.
JPEN. Journal of Parenteral and Enteral Nutrition|March 13, 2014
Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and LactationAnn E Wessel, Kris M Mogensen, Frances Rohr, et al.
Molecular Genetics and Metabolism|July 23, 2018
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelinationLance H Rodan, Wanshu Qi, Gregory S Ducker, et al.
Journal of Inherited Metabolic Disease|October 12, 2012
The male reproductive system in classic galactosemia: cryptorchidism and low semen volumeCynthia S Gubbels, Corrine K Welt, John C M Dumoulin, et al.
Journal of Inherited Metabolic Disease|December 7, 2019
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular modelsMinela Haskovic, Ana I Coelho, Jörgen Bierau, et al.
Human Genetics|January 26, 2002
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndromeRené Santer, Sebastian Groth, Martina Kinner, et al.
JIMD Reports|June 27, 2019
Phenotypic variability in deficiency of the α subunit of succinate-CoA ligaseDidem Demirbas, David J Harris, Pamela H Arn, et al.
Journal of Inherited Metabolic Disease|July 27, 2020
A retrospective study of adult patients with noncirrhotic hyperammonemiaAndrew B Stergachis, Kris M Mogensen, Charbel C Khoury, et al.
Pageof 14