Search research articles
Contact Us
Filters
Showing results (111-120 of 293) with videos related to
Page
of 30
Sort By:
Molecular Genetics and Metabolism
|
July 31, 2019
Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment
Jerry Vockley, Steven F Dobrowolski, Georgianne L Arnold, et al.
The Journal of Biological Chemistry
|
January 29, 2002
Crystal structure of rat short chain acyl-CoA dehydrogenase complexed with acetoacetyl-CoA: comparison with other acyl-CoA dehydrogenases
Kevin P Battaile, JoAnn Molin-Case, Rosemary Paschke, et al.
Molecular Genetics and Metabolism
|
May 21, 2015
Altered DNA methylation in PAH deficient phenylketonuria
Steven F Dobrowolski, James Lyons-Weiler, Kayla Spridik, et al.
Orphanet Journal of Rare Diseases
|
January 27, 2012
Clinical and neurocognitive outcome in symptomatic isovaleric acidemia
Sarah C Grünert, Udo Wendel, Martin Lindner, et al.
Molecular Genetics and Metabolism
|
April 2, 2014
Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice
Wei Wang, Al-Walid Mohsen, Guy Uechi, et al.
Plos One
|
December 10, 2020
ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice
Kaitlyn Bloom, Anuradha Karunanidhi, Kimimasa Tobita, et al.
Therapeutic Innovation & Regulatory Science
|
May 20, 2021
The Use of External Controls in FDA Regulatory Decision Making
Mahta Jahanshahi, Keith Gregg, Gillian Davis, et al.
Molecular Genetics and Metabolism
|
September 18, 2021
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis
Olivia M D'Annibale, Erik A Koppes, Ahmad N Alodaib, et al.
The Journal of Gene Medicine
|
August 23, 2008
Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient mice
Stuart G Beattie, Eric Goetzman, Qiuishi Tang, et al.
Molecular Genetics and Metabolism
|
March 11, 2020
Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case
Steven F Dobrowolski, Ahmad Alodaib, Anuradha Karunanidhi, et al.
Page
of 30
Search research articles
Search
Showing results (111-120 of 293) with videos related to
Sort By:
Page
of 30
Molecular Genetics and Metabolism
|
July 31, 2019
Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment
Jerry Vockley, Steven F Dobrowolski, Georgianne L Arnold, et al.
The Journal of Biological Chemistry
|
January 29, 2002
Crystal structure of rat short chain acyl-CoA dehydrogenase complexed with acetoacetyl-CoA: comparison with other acyl-CoA dehydrogenases
Kevin P Battaile, JoAnn Molin-Case, Rosemary Paschke, et al.
Molecular Genetics and Metabolism
|
May 21, 2015
Altered DNA methylation in PAH deficient phenylketonuria
Steven F Dobrowolski, James Lyons-Weiler, Kayla Spridik, et al.
Orphanet Journal of Rare Diseases
|
January 27, 2012
Clinical and neurocognitive outcome in symptomatic isovaleric acidemia
Sarah C Grünert, Udo Wendel, Martin Lindner, et al.
Molecular Genetics and Metabolism
|
April 2, 2014
Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice
Wei Wang, Al-Walid Mohsen, Guy Uechi, et al.
Plos One
|
December 10, 2020
ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice
Kaitlyn Bloom, Anuradha Karunanidhi, Kimimasa Tobita, et al.
Therapeutic Innovation & Regulatory Science
|
May 20, 2021
The Use of External Controls in FDA Regulatory Decision Making
Mahta Jahanshahi, Keith Gregg, Gillian Davis, et al.
Molecular Genetics and Metabolism
|
September 18, 2021
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis
Olivia M D'Annibale, Erik A Koppes, Ahmad N Alodaib, et al.
The Journal of Gene Medicine
|
August 23, 2008
Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient mice
Stuart G Beattie, Eric Goetzman, Qiuishi Tang, et al.
Molecular Genetics and Metabolism
|
March 11, 2020
Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case
Steven F Dobrowolski, Ahmad Alodaib, Anuradha Karunanidhi, et al.
Page
of 30