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Showing results (171-180 of 208) with videos related to

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Molecular Genetics and Metabolism|February 22, 2025
Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunctionKinsley Belle, Alexander Kreymerman, Jill L Young, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Journal of Clinical Medicine|November 23, 2019
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> VariantsRocio Rius, Nicole J Van Bergen, Alison G Compton, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.
Molecular Genetics and Metabolism|June 29, 2013
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolismKathryn M Camp, Michele A Lloyd-Puryear, Lynne Yao, et al.
Human Mutation|January 22, 2008
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinaseD P Dimmock, Q Zhang, C Dionisi-Vici, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 28, 2015
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infantsSimon A Jones, Vassili Valayannopoulos, Eugene Schneider, 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 Hepatology|July 5, 2014
Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiencyVassili Valayannopoulos, Vera Malinova, Tomas Honzík, 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.
Pageof 21

Showing results (171-180 of 208) with videos related to

Sort By:
Pageof 21
Molecular Genetics and Metabolism|February 22, 2025
Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunctionKinsley Belle, Alexander Kreymerman, Jill L Young, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Journal of Clinical Medicine|November 23, 2019
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> VariantsRocio Rius, Nicole J Van Bergen, Alison G Compton, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.
Molecular Genetics and Metabolism|June 29, 2013
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolismKathryn M Camp, Michele A Lloyd-Puryear, Lynne Yao, et al.
Human Mutation|January 22, 2008
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinaseD P Dimmock, Q Zhang, C Dionisi-Vici, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 28, 2015
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infantsSimon A Jones, Vassili Valayannopoulos, Eugene Schneider, 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 Hepatology|July 5, 2014
Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiencyVassili Valayannopoulos, Vera Malinova, Tomas Honzík, 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.
Pageof 21