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JIMD Reports
|
August 9, 2019
Domino liver transplantation for select metabolic disorders: Expanding the living donor pool
Neslihan Celik, James E Squires, Kyle Soltys, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 4, 2014
Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
Rani H Singh, Fran Rohr, Dianne Frazier, et al.
Kidney International
|
August 5, 2022
Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1
Merlin Airik, Yu Leng Phua, Amy B Huynh, et al.
Molecular Genetics and Metabolism
|
February 6, 2014
Liver transplantation for pediatric metabolic disease
George Mazariegos, Benjamin Shneider, Barbara Burton, et al.
Cell Death and Differentiation
|
December 29, 2024
Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53
Anna Kasprzyk-Pawelec, Mingjun Tan, Raneen Rahhal, et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals
|
March 25, 2011
Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway
Paula B M Luís, Jos P N Ruiter, Lodewijk Ijlst, et al.
Scientific Reports
|
July 5, 2016
Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD
Davis S Sonnet, Monique N O'Leary, Mark A Gutierrez, et al.
Scientific Reports
|
November 2, 2019
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation
Lina Ghaloul-Gonzalez, Al-Walid Mohsen, Anuradha Karunanidhi, et al.
Pediatrics
|
July 3, 2003
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry
Dietrich Matern, Miao He, Susan A Berry, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2024
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy
Melanie B Gillingham, Dongseok Choi, Ashley Gregor, et al.
Page
of 30
Search research articles
Search
Showing results (201-210 of 295) with videos related to
Sort By:
Page
of 30
JIMD Reports
|
August 9, 2019
Domino liver transplantation for select metabolic disorders: Expanding the living donor pool
Neslihan Celik, James E Squires, Kyle Soltys, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 4, 2014
Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
Rani H Singh, Fran Rohr, Dianne Frazier, et al.
Kidney International
|
August 5, 2022
Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1
Merlin Airik, Yu Leng Phua, Amy B Huynh, et al.
Molecular Genetics and Metabolism
|
February 6, 2014
Liver transplantation for pediatric metabolic disease
George Mazariegos, Benjamin Shneider, Barbara Burton, et al.
Cell Death and Differentiation
|
December 29, 2024
Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53
Anna Kasprzyk-Pawelec, Mingjun Tan, Raneen Rahhal, et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals
|
March 25, 2011
Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway
Paula B M Luís, Jos P N Ruiter, Lodewijk Ijlst, et al.
Scientific Reports
|
July 5, 2016
Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD
Davis S Sonnet, Monique N O'Leary, Mark A Gutierrez, et al.
Scientific Reports
|
November 2, 2019
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation
Lina Ghaloul-Gonzalez, Al-Walid Mohsen, Anuradha Karunanidhi, et al.
Pediatrics
|
July 3, 2003
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry
Dietrich Matern, Miao He, Susan A Berry, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2024
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy
Melanie B Gillingham, Dongseok Choi, Ashley Gregor, et al.
Page
of 30