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Showing results (161-170 of 208) with videos related to

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Journal of Inherited Metabolic Disease|December 16, 2020
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiencyGeorge A Diaz, Andreas Schulze, Markey C McNutt, et al.
American Journal of Medical Genetics. Part A|March 8, 2021
Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophyChristina G Tise, Jose Andres Morales, Ariel S Lee, et al.
Journal of Animal Science|August 3, 2016
Genetic parameters estimated at receiving for circulating cortisol, immunoglobulin G, interleukin 8, and incidence of bovine respiratory disease in feedlot beef steersR R Cockrum, S E Speidel, J L Salak-Johnson, et al.
Hepatology (Baltimore, Md.)|January 26, 2013
Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage diseaseManisha Balwani, Catherine Breen, Gregory M Enns, et al.
Molecular Genetics and Metabolism|July 12, 2016
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretorsLori-Anne P Schillaci, Carol L Greene, Erin Strovel, et al.
Molecular Genetics and Metabolism|October 12, 2011
Natural history of propionic acidemiaLoren Pena, Jill Franks, Kimberly A Chapman, et al.
Molecular Genetics and Metabolism|August 13, 2013
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) geneSirisak Chanprasert, Jing Wang, Shao-Wen Weng, et al.
Neurology. Genetics|April 24, 2023
A Phase 1 Study of Oral Vitamin D<sub>3</sub> in Boys and Young Men With X-Linked AdrenoleukodystrophyKeith P Van Haren, Kristen Cunanan, Avni Awani, et al.
Journal of Pediatric Gastroenterology and Nutrition|August 8, 2015
Clinical Features of Lysosomal Acid Lipase DeficiencyBarbara K Burton, Patrick B Deegan, Gregory M Enns, et al.
Molecular Genetics and Metabolism|April 10, 2025
Corrigendum to "Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction" [Molecular Genetics and Metabolism 144 (2025); 109049]Kinsley Belle, Alexander Kreymerman, Jill L Young, et al.
Pageof 21

Showing results (161-170 of 208) with videos related to

Sort By:
Pageof 21
Journal of Inherited Metabolic Disease|December 16, 2020
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiencyGeorge A Diaz, Andreas Schulze, Markey C McNutt, et al.
American Journal of Medical Genetics. Part A|March 8, 2021
Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophyChristina G Tise, Jose Andres Morales, Ariel S Lee, et al.
Journal of Animal Science|August 3, 2016
Genetic parameters estimated at receiving for circulating cortisol, immunoglobulin G, interleukin 8, and incidence of bovine respiratory disease in feedlot beef steersR R Cockrum, S E Speidel, J L Salak-Johnson, et al.
Hepatology (Baltimore, Md.)|January 26, 2013
Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage diseaseManisha Balwani, Catherine Breen, Gregory M Enns, et al.
Molecular Genetics and Metabolism|July 12, 2016
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretorsLori-Anne P Schillaci, Carol L Greene, Erin Strovel, et al.
Molecular Genetics and Metabolism|October 12, 2011
Natural history of propionic acidemiaLoren Pena, Jill Franks, Kimberly A Chapman, et al.
Molecular Genetics and Metabolism|August 13, 2013
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) geneSirisak Chanprasert, Jing Wang, Shao-Wen Weng, et al.
Neurology. Genetics|April 24, 2023
A Phase 1 Study of Oral Vitamin D<sub>3</sub> in Boys and Young Men With X-Linked AdrenoleukodystrophyKeith P Van Haren, Kristen Cunanan, Avni Awani, et al.
Journal of Pediatric Gastroenterology and Nutrition|August 8, 2015
Clinical Features of Lysosomal Acid Lipase DeficiencyBarbara K Burton, Patrick B Deegan, Gregory M Enns, et al.
Molecular Genetics and Metabolism|April 10, 2025
Corrigendum to "Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction" [Molecular Genetics and Metabolism 144 (2025); 109049]Kinsley Belle, Alexander Kreymerman, Jill L Young, et al.
Pageof 21