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Journal of Inherited Metabolic Disease
|
February 26, 2022
Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening
Olivia M D'Annibale, Erik A Koppes, Meena Sethuraman, et al.
The Journal of Biological Chemistry
|
January 30, 2008
Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase
Ryan P McAndrew, Yudong Wang, Al-Walid Mohsen, et al.
Analytical Biochemistry
|
June 14, 2019
An acyl-CoA dehydrogenase microplate activity assay using recombinant porcine electron transfer flavoprotein
Yuxun Zhang, Al-Walid Mohsen, Catherine Kochersperger, et al.
Neuromuscular Disorders : NMD
|
January 8, 2011
Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy
Houman Homayoun, Simin Khavandgar, Jacqueline M Hoover, et al.
Molecular Genetics and Metabolism
|
September 3, 2023
Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency
Anuradha Karunanidhi, Shakuntala Basu, Xue-Jun Zhao, et al.
Proteins
|
July 29, 2025
The Crystal Structure of Human Transport and Golgi Organization 2 Homolog (TANGO2) Protein Reveals an αββα-Fold Arrangement
Anne Cooper, Alyssa Powers, Kevin P Battaile, et al.
Cells
|
September 9, 2022
Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics
Olivia M D'Annibale, Yu Leng Phua, Clinton Van't Land, et al.
Iscience
|
October 14, 2021
Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly
Chuanwu Xia, Baoying Lou, Zhuji Fu, et al.
Molecular Genetics and Metabolism
|
May 21, 2024
A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria
Yu Leng Phua, Olivia M D'Annibale, Anuradha Karunanidhi, et al.
Biorxiv : the Preprint Server for Biology
|
February 13, 2023
A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment
Yu Leng Phua, Olivia M D'Annibale, Anuradha Karunanidhi, et al.
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Search research articles
Search
Showing results (11-20 of 45) with videos related to
Sort By:
Page
of 5
Journal of Inherited Metabolic Disease
|
February 26, 2022
Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening
Olivia M D'Annibale, Erik A Koppes, Meena Sethuraman, et al.
The Journal of Biological Chemistry
|
January 30, 2008
Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase
Ryan P McAndrew, Yudong Wang, Al-Walid Mohsen, et al.
Analytical Biochemistry
|
June 14, 2019
An acyl-CoA dehydrogenase microplate activity assay using recombinant porcine electron transfer flavoprotein
Yuxun Zhang, Al-Walid Mohsen, Catherine Kochersperger, et al.
Neuromuscular Disorders : NMD
|
January 8, 2011
Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy
Houman Homayoun, Simin Khavandgar, Jacqueline M Hoover, et al.
Molecular Genetics and Metabolism
|
September 3, 2023
Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency
Anuradha Karunanidhi, Shakuntala Basu, Xue-Jun Zhao, et al.
Proteins
|
July 29, 2025
The Crystal Structure of Human Transport and Golgi Organization 2 Homolog (TANGO2) Protein Reveals an αββα-Fold Arrangement
Anne Cooper, Alyssa Powers, Kevin P Battaile, et al.
Cells
|
September 9, 2022
Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics
Olivia M D'Annibale, Yu Leng Phua, Clinton Van't Land, et al.
Iscience
|
October 14, 2021
Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly
Chuanwu Xia, Baoying Lou, Zhuji Fu, et al.
Molecular Genetics and Metabolism
|
May 21, 2024
A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria
Yu Leng Phua, Olivia M D'Annibale, Anuradha Karunanidhi, et al.
Biorxiv : the Preprint Server for Biology
|
February 13, 2023
A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment
Yu Leng Phua, Olivia M D'Annibale, Anuradha Karunanidhi, et al.
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