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Gerard T Berry

Showing results (81-90 of 138) with videos related to

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American Journal of Medical Genetics. Part A|October 10, 2020
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosisAlissa M D'Gama, Eleina England, Jill A Madden, et al.
Journal of Inherited Metabolic Disease|February 18, 2020
An emerging role for endothelial barrier support therapy for congenital disorders of glycosylationWilliam J Brucker, Stacy E Croteau, John R Prensner, et al.
Human Reproduction Update|December 13, 2022
The hypergonadotropic hypogonadism conundrum of classic galactosemiaBritt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, et al.
Molecular Genetics and Metabolism|August 5, 2008
Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels in neonatal brainRoberto Buccafusca, Charles P Venditti, Lawrence C Kenyon, et al.
Molecular Genetics and Metabolism|January 20, 2007
REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish populationIngrid Tein, Orly Elpeleg, Bruria Ben-Zeev, et al.
Molecular Genetics and Metabolism|July 26, 2024
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiencyShawn E Christ, Georgianne Arnold, Uta Lichter-Konecki, et al.
Molecular Genetics and Metabolism|December 4, 2016
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletionXiaoping Huang, Jirair K Bedoyan, Didem Demirbas, et al.
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.
Pageof 14

Showing results (81-90 of 138) with videos related to

Sort By:
Pageof 14
American Journal of Medical Genetics. Part A|October 10, 2020
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosisAlissa M D'Gama, Eleina England, Jill A Madden, et al.
Journal of Inherited Metabolic Disease|February 18, 2020
An emerging role for endothelial barrier support therapy for congenital disorders of glycosylationWilliam J Brucker, Stacy E Croteau, John R Prensner, et al.
Human Reproduction Update|December 13, 2022
The hypergonadotropic hypogonadism conundrum of classic galactosemiaBritt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, et al.
Molecular Genetics and Metabolism|August 5, 2008
Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels in neonatal brainRoberto Buccafusca, Charles P Venditti, Lawrence C Kenyon, et al.
Molecular Genetics and Metabolism|January 20, 2007
REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish populationIngrid Tein, Orly Elpeleg, Bruria Ben-Zeev, et al.
Molecular Genetics and Metabolism|July 26, 2024
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiencyShawn E Christ, Georgianne Arnold, Uta Lichter-Konecki, et al.
Molecular Genetics and Metabolism|December 4, 2016
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletionXiaoping Huang, Jirair K Bedoyan, Didem Demirbas, et al.
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.
Pageof 14