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T Berry

Showing results (361-370 of 780) with videos related to

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JIMD Reports|August 9, 2019
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (<i>PDP1</i>) causing pyruvate dehydrogenase complex deficiencyJirair K Bedoyan, Leah Hecht, Shulin Zhang, et al.
Plos One|March 29, 2013
Bumetanide enhances phenobarbital efficacy in a rat model of hypoxic neonatal seizuresRyan T Cleary, Hongyu Sun, Thanhthao Huynh, et al.
JIMD Reports|July 21, 2020
The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantationGerard T Berry, Elizabeth D Blume, Ann Wessel, et al.
The Journal of Pediatrics|July 31, 2018
Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B<sub>12</sub> Metabolism: Case Reports and Literature ReviewDolores Mullikin, Nishitha Pillai, Rossana Sanchez, et al.
The American Journal of Gastroenterology|November 1, 1996
GI complications after orthotopic lung transplantationE I Lubetkin, D A Lipson, H I Palevsky, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)Jerry Vockley, Barbara Burton, Gerard T Berry, et al.
American Journal of Medical Genetics. Part A|November 27, 2018
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalitiesLance H Rodan, Kwame Anyane-Yeboa, Karen Chong, et al.
Genomics|August 31, 2000
Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutationsT Fukao, G A Mitchell, X Q Song, et al.
The American Journal of Clinical Nutrition|March 5, 2025
Phenylketonuria in adults: we know plenty, but there is much more to learnCary O Harding, Georgianne Arnold, Gerard T Berry, et al.
Molecular Genetics and Metabolism|December 7, 2007
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish originIngrid Tein, Orly Elpeleg, Bruria Ben-Zeev, et al.
Pageof 78

Showing results (361-370 of 780) with videos related to

Sort By:
Pageof 78
JIMD Reports|August 9, 2019
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (<i>PDP1</i>) causing pyruvate dehydrogenase complex deficiencyJirair K Bedoyan, Leah Hecht, Shulin Zhang, et al.
Plos One|March 29, 2013
Bumetanide enhances phenobarbital efficacy in a rat model of hypoxic neonatal seizuresRyan T Cleary, Hongyu Sun, Thanhthao Huynh, et al.
JIMD Reports|July 21, 2020
The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantationGerard T Berry, Elizabeth D Blume, Ann Wessel, et al.
The Journal of Pediatrics|July 31, 2018
Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B<sub>12</sub> Metabolism: Case Reports and Literature ReviewDolores Mullikin, Nishitha Pillai, Rossana Sanchez, et al.
The American Journal of Gastroenterology|November 1, 1996
GI complications after orthotopic lung transplantationE I Lubetkin, D A Lipson, H I Palevsky, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)Jerry Vockley, Barbara Burton, Gerard T Berry, et al.
American Journal of Medical Genetics. Part A|November 27, 2018
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalitiesLance H Rodan, Kwame Anyane-Yeboa, Karen Chong, et al.
Genomics|August 31, 2000
Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutationsT Fukao, G A Mitchell, X Q Song, et al.
The American Journal of Clinical Nutrition|March 5, 2025
Phenylketonuria in adults: we know plenty, but there is much more to learnCary O Harding, Georgianne Arnold, Gerard T Berry, et al.
Molecular Genetics and Metabolism|December 7, 2007
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish originIngrid Tein, Orly Elpeleg, Bruria Ben-Zeev, et al.
Pageof 78