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Journal of Inherited Metabolic Disease
|
September 6, 2017
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial
Melanie B Gillingham, Stephen B Heitner, Julie Martin, et al.
Orphanet Journal of Rare Diseases
|
August 12, 2024
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
Kaleigh B Whitehall, Sarah Rose, Gillian E Clague, et al.
Plos One
|
January 25, 2021
Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing
Robert A Kaiser, Daniel F Carlson, Kari L Allen, et al.
Molecular Genetics and Metabolism
|
July 22, 2019
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients
George A Diaz, Andreas Schulze, Nicola Longo, et al.
Cell Stem Cell
|
May 7, 2016
Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs
Eunju Kang, Xinjian Wang, Rebecca Tippner-Hedges, et al.
Science Translational Medicine
|
July 29, 2016
Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1
Raymond D Hickey, Shennen A Mao, Jaime Glorioso, et al.
Molecular Genetics and Metabolism
|
August 26, 2022
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
Barbara K Burton, Álvaro Hermida, Amaya Bélanger-Quintana, et al.
Molecular Genetics and Metabolism
|
March 2, 2010
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
Jennifer Seminara, Mendel Tuchman, Lauren Krivitzky, et al.
American Journal of Medical Genetics. Part A
|
February 19, 2016
Generating a taxonomy for genetic conditions relevant to reproductive planning
Diane M Korngiebel, Carmit K McMullen, Laura M Amendola, et al.
Molecular Genetics and Metabolism
|
August 23, 2015
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials
Sandesh C S Nagamani, George A Diaz, William Rhead, et al.
Page
of 12
Search research articles
Search
Showing results (101-110 of 113) with videos related to
Sort By:
Page
of 12
Journal of Inherited Metabolic Disease
|
September 6, 2017
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial
Melanie B Gillingham, Stephen B Heitner, Julie Martin, et al.
Orphanet Journal of Rare Diseases
|
August 12, 2024
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
Kaleigh B Whitehall, Sarah Rose, Gillian E Clague, et al.
Plos One
|
January 25, 2021
Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing
Robert A Kaiser, Daniel F Carlson, Kari L Allen, et al.
Molecular Genetics and Metabolism
|
July 22, 2019
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients
George A Diaz, Andreas Schulze, Nicola Longo, et al.
Cell Stem Cell
|
May 7, 2016
Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs
Eunju Kang, Xinjian Wang, Rebecca Tippner-Hedges, et al.
Science Translational Medicine
|
July 29, 2016
Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1
Raymond D Hickey, Shennen A Mao, Jaime Glorioso, et al.
Molecular Genetics and Metabolism
|
August 26, 2022
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
Barbara K Burton, Álvaro Hermida, Amaya Bélanger-Quintana, et al.
Molecular Genetics and Metabolism
|
March 2, 2010
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
Jennifer Seminara, Mendel Tuchman, Lauren Krivitzky, et al.
American Journal of Medical Genetics. Part A
|
February 19, 2016
Generating a taxonomy for genetic conditions relevant to reproductive planning
Diane M Korngiebel, Carmit K McMullen, Laura M Amendola, et al.
Molecular Genetics and Metabolism
|
August 23, 2015
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials
Sandesh C S Nagamani, George A Diaz, William Rhead, et al.
Page
of 12