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JIMD Reports
|
September 14, 2022
Glutamine energy substrate anaplerosis increases bone density in the Pah<sup>enu2</sup> classical PKU mouse in the absence of phenylalanine restriction
Steven F Dobrowolski, Yu Leng Phua, Irina L Tourkova, et al.
Molecular Genetics and Metabolism Reports
|
June 9, 2022
Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database
Chelsey Chaehee Lim, Jerry Vockley, Otobo Ujah, et al.
The Journal of Biological Chemistry
|
September 25, 2003
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency
Christina Bak Pedersen, Peter Bross, Vibeke Stenbroen Winter, et al.
JIMD Reports
|
June 27, 2019
Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase
Verena Peters, Marina Morath, Matthias Mack, et al.
Molecular Genetics and Metabolism
|
January 18, 2011
Identification and characterization of new long chain acyl-CoA dehydrogenases
Miao He, Zhengtong Pei, Al-Walid Mohsen, et al.
International Journal of Neonatal Screening
|
October 24, 2025
Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions
Eva Thimm, Anselma Riederer, Jerry Vockley, et al.
Redox Biology
|
March 16, 2021
Mitochondrial morphology, bioenergetics and proteomic responses in fatty acid oxidation disorders
Serena Raimo, Gabriella Zura-Miller, Hossein Fezelinia, et al.
Molecular Genetics & Genomic Medicine
|
September 9, 2023
Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism
Anisha Verma, April N Lehman, Hatice Gokcan, et al.
Journal of Inherited Metabolic Disease
|
February 25, 2016
Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation
Colin S McCoin, Brian D Piccolo, Trina A Knotts, et al.
Journal of Inherited Metabolic Disease
|
January 7, 2026
Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibroblasts
Eduardo Vieira Neto, Meicheng Wang, Austin J Szuminsky, et al.
Page
of 30
Search research articles
Search
Showing results (121-130 of 294) with videos related to
Sort By:
Page
of 30
JIMD Reports
|
September 14, 2022
Glutamine energy substrate anaplerosis increases bone density in the Pah<sup>enu2</sup> classical PKU mouse in the absence of phenylalanine restriction
Steven F Dobrowolski, Yu Leng Phua, Irina L Tourkova, et al.
Molecular Genetics and Metabolism Reports
|
June 9, 2022
Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database
Chelsey Chaehee Lim, Jerry Vockley, Otobo Ujah, et al.
The Journal of Biological Chemistry
|
September 25, 2003
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency
Christina Bak Pedersen, Peter Bross, Vibeke Stenbroen Winter, et al.
JIMD Reports
|
June 27, 2019
Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase
Verena Peters, Marina Morath, Matthias Mack, et al.
Molecular Genetics and Metabolism
|
January 18, 2011
Identification and characterization of new long chain acyl-CoA dehydrogenases
Miao He, Zhengtong Pei, Al-Walid Mohsen, et al.
International Journal of Neonatal Screening
|
October 24, 2025
Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions
Eva Thimm, Anselma Riederer, Jerry Vockley, et al.
Redox Biology
|
March 16, 2021
Mitochondrial morphology, bioenergetics and proteomic responses in fatty acid oxidation disorders
Serena Raimo, Gabriella Zura-Miller, Hossein Fezelinia, et al.
Molecular Genetics & Genomic Medicine
|
September 9, 2023
Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism
Anisha Verma, April N Lehman, Hatice Gokcan, et al.
Journal of Inherited Metabolic Disease
|
February 25, 2016
Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation
Colin S McCoin, Brian D Piccolo, Trina A Knotts, et al.
Journal of Inherited Metabolic Disease
|
January 7, 2026
Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibroblasts
Eduardo Vieira Neto, Meicheng Wang, Austin J Szuminsky, et al.
Page
of 30