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American Journal of Medical Genetics. Part A
|
October 22, 2008
Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication
Craig Horbinski, Erika M Carter, Patricia L Heard, et al.
Clinical Transplantation
|
September 21, 2020
Liver transplant for inherited metabolic disease among siblings
Patrick J McKiernan, James E Squires, Robert H Squires, et al.
Physiological Reports
|
March 27, 2019
Blood cytokine patterns suggest a modest inflammation phenotype in subjects with long-chain fatty acid oxidation disorders
Colin S McCoin, Melanie B Gillingham, Trina A Knotts, et al.
Human Mutation
|
March 15, 2019
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation
Emanuele G Coci, Vytautas Gapsys, Natasha Shur, et al.
Diabetes Care
|
January 24, 2012
Metabolomic profiling of fatty acid and amino acid metabolism in youth with obesity and type 2 diabetes: evidence for enhanced mitochondrial oxidation
Stephanie J Mihalik, Sara F Michaliszyn, Javier de las Heras, et al.
Molecular Genetics and Metabolism
|
December 30, 2019
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics
Harvey Levy, Diana Lamppu, Vera Anastosoaie, et al.
Orphanet Journal of Rare Diseases
|
July 6, 2018
Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study
Nicola Longo, Roberto Zori, Melissa P Wasserstein, et al.
Molecular Genetics and Metabolism
|
June 29, 2020
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up
Barbara K Burton, Nicola Longo, Jerry Vockley, et al.
Cells
|
June 28, 2023
Myelin Disruption, Neuroinflammation, and Oxidative Stress Induced by Sulfite in the Striatum of Rats Are Mitigated by the pan-PPAR agonist Bezafibrate
Nícolas Manzke Glänzel, Belisa Parmeggiani, Mateus Grings, et al.
American Journal of Medical Genetics. Part A
|
May 5, 2021
Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach
Rachel M Wolfe, Al-Walid Mohsen, Cate Walsh Vockley, et al.
Page
of 30
Search research articles
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Showing results (161-170 of 294) with videos related to
Sort By:
Page
of 30
American Journal of Medical Genetics. Part A
|
October 22, 2008
Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication
Craig Horbinski, Erika M Carter, Patricia L Heard, et al.
Clinical Transplantation
|
September 21, 2020
Liver transplant for inherited metabolic disease among siblings
Patrick J McKiernan, James E Squires, Robert H Squires, et al.
Physiological Reports
|
March 27, 2019
Blood cytokine patterns suggest a modest inflammation phenotype in subjects with long-chain fatty acid oxidation disorders
Colin S McCoin, Melanie B Gillingham, Trina A Knotts, et al.
Human Mutation
|
March 15, 2019
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation
Emanuele G Coci, Vytautas Gapsys, Natasha Shur, et al.
Diabetes Care
|
January 24, 2012
Metabolomic profiling of fatty acid and amino acid metabolism in youth with obesity and type 2 diabetes: evidence for enhanced mitochondrial oxidation
Stephanie J Mihalik, Sara F Michaliszyn, Javier de las Heras, et al.
Molecular Genetics and Metabolism
|
December 30, 2019
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics
Harvey Levy, Diana Lamppu, Vera Anastosoaie, et al.
Orphanet Journal of Rare Diseases
|
July 6, 2018
Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study
Nicola Longo, Roberto Zori, Melissa P Wasserstein, et al.
Molecular Genetics and Metabolism
|
June 29, 2020
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up
Barbara K Burton, Nicola Longo, Jerry Vockley, et al.
Cells
|
June 28, 2023
Myelin Disruption, Neuroinflammation, and Oxidative Stress Induced by Sulfite in the Striatum of Rats Are Mitigated by the pan-PPAR agonist Bezafibrate
Nícolas Manzke Glänzel, Belisa Parmeggiani, Mateus Grings, et al.
American Journal of Medical Genetics. Part A
|
May 5, 2021
Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach
Rachel M Wolfe, Al-Walid Mohsen, Cate Walsh Vockley, et al.
Page
of 30