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Gerard T Berry

Showing results (121-130 of 138) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2012
Exploring concordance and discordance for return of incidental findings from clinical sequencingRobert C Green, Jonathan S Berg, Gerard T Berry, et al.
Orphanet Journal of Rare Diseases|March 10, 2026
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history studyBernd C Schwahn, Gerard T Berry, Hilary J Vernon, et al.
Translational Science of Rare Diseases|January 8, 2019
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate ConsortiumNicholas Ah Mew, Avital Cnaan, Robert McCarter, et al.
Journal of Inherited Metabolic Disease|March 28, 2012
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomesPatricia P Jumbo-Lucioni, Kathryn Garber, John Kiel, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 31, 2013
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemiaIrini Manoli, Justin R Sysol, Lingli Li, et al.
Molecular Genetics and Metabolism Reports|June 21, 2018
<i>De novo ATP1A3</i> and compound heterozygous <i>NLRP3</i> mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndromeAlcy Torres, Catherine A Brownstein, Sahil K Tembulkar, et al.
Journal of Inherited Metabolic Disease|November 19, 2016
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-upLindsey Welling, Laurie E Bernstein, Gerard T Berry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 19, 2020
Galactokinase deficiency: lessons from the GalNet registryM Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.
JCI Insight|January 25, 2024
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylationIrini Manoli, Justin R Sysol, PamelaSara E Head, et al.
Journal of Inherited Metabolic Disease|September 12, 2022
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALTQuinton S Katler, Karolina M Stepien, Nathan Paull, et al.
Pageof 14

Showing results (121-130 of 138) with videos related to

Sort By:
Pageof 14
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2012
Exploring concordance and discordance for return of incidental findings from clinical sequencingRobert C Green, Jonathan S Berg, Gerard T Berry, et al.
Orphanet Journal of Rare Diseases|March 10, 2026
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history studyBernd C Schwahn, Gerard T Berry, Hilary J Vernon, et al.
Translational Science of Rare Diseases|January 8, 2019
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate ConsortiumNicholas Ah Mew, Avital Cnaan, Robert McCarter, et al.
Journal of Inherited Metabolic Disease|March 28, 2012
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomesPatricia P Jumbo-Lucioni, Kathryn Garber, John Kiel, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 31, 2013
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemiaIrini Manoli, Justin R Sysol, Lingli Li, et al.
Molecular Genetics and Metabolism Reports|June 21, 2018
<i>De novo ATP1A3</i> and compound heterozygous <i>NLRP3</i> mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndromeAlcy Torres, Catherine A Brownstein, Sahil K Tembulkar, et al.
Journal of Inherited Metabolic Disease|November 19, 2016
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-upLindsey Welling, Laurie E Bernstein, Gerard T Berry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 19, 2020
Galactokinase deficiency: lessons from the GalNet registryM Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.
JCI Insight|January 25, 2024
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylationIrini Manoli, Justin R Sysol, PamelaSara E Head, et al.
Journal of Inherited Metabolic Disease|September 12, 2022
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALTQuinton S Katler, Karolina M Stepien, Nathan Paull, et al.
Pageof 14