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Steven F Dobrowolski

Showing results (1-10 of 58) with videos related to

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Clinical Chemistry|July 6, 2021
An Infant with a Constellation of Biochemical AbnormalitiesYu Leng Phua, Steven F Dobrowolski
Pediatric Reports|December 30, 2017
Medium chain acyl-CoA dehydrogenase deficiency in a premature infantSteven F Dobrowolski, Lina Ghaloul-Gonzalez, Jerry Vockley
Human Mutation|June 15, 2007
Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model systemSteven F Dobrowolski, Clinton E Ellingson, Ljubica Caldovic, et al.
Clinical Chemistry|December 1, 2023
Congenital Disorder of Glycosylation in a Child with MacrosomiaSuneeta Madan-Khetarpal, Maio He, Parith Wongkittichote, et al.
Molecular Genetics and Metabolism|March 6, 2003
Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiencySteven F Dobrowolski, Janine Angeletti, Richard A Banas, et al.
Molecular Genetics and Metabolism Reports|August 17, 2023
Creatine energy substrate increases bone density in the Pah<sup>enu2</sup> classical PKU mouse in the context of phenylalanine restrictionSteven F Dobrowolski, Irina L Tourkova, Quitterie C Larrouture, et al.
Molecular Genetics and Metabolism|May 12, 2010
The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencerSteven F Dobrowolski, Henriette S Andersen, Thomas K Doktor, et al.
Molecular Genetics and Metabolism|April 5, 2022
Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunitySteven F Dobrowolski, Yu Leng Phua, Jerry Vockley, et al.
The Journal of Molecular Diagnostics : JMD|January 29, 2003
Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemiaSteven F Dobrowolski, Richard A Banas, Joseph G Suzow, et al.
Frontiers in Genetics|February 15, 2021
Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation DisordersEvgenia Sklirou, Ahmad N Alodaib, Steven F Dobrowolski, et al.
Pageof 6

Showing results (1-10 of 58) with videos related to

Sort By:
Pageof 6
Clinical Chemistry|July 6, 2021
An Infant with a Constellation of Biochemical AbnormalitiesYu Leng Phua, Steven F Dobrowolski
Pediatric Reports|December 30, 2017
Medium chain acyl-CoA dehydrogenase deficiency in a premature infantSteven F Dobrowolski, Lina Ghaloul-Gonzalez, Jerry Vockley
Human Mutation|June 15, 2007
Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model systemSteven F Dobrowolski, Clinton E Ellingson, Ljubica Caldovic, et al.
Clinical Chemistry|December 1, 2023
Congenital Disorder of Glycosylation in a Child with MacrosomiaSuneeta Madan-Khetarpal, Maio He, Parith Wongkittichote, et al.
Molecular Genetics and Metabolism|March 6, 2003
Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiencySteven F Dobrowolski, Janine Angeletti, Richard A Banas, et al.
Molecular Genetics and Metabolism Reports|August 17, 2023
Creatine energy substrate increases bone density in the Pah<sup>enu2</sup> classical PKU mouse in the context of phenylalanine restrictionSteven F Dobrowolski, Irina L Tourkova, Quitterie C Larrouture, et al.
Molecular Genetics and Metabolism|May 12, 2010
The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencerSteven F Dobrowolski, Henriette S Andersen, Thomas K Doktor, et al.
Molecular Genetics and Metabolism|April 5, 2022
Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunitySteven F Dobrowolski, Yu Leng Phua, Jerry Vockley, et al.
The Journal of Molecular Diagnostics : JMD|January 29, 2003
Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemiaSteven F Dobrowolski, Richard A Banas, Joseph G Suzow, et al.
Frontiers in Genetics|February 15, 2021
Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation DisordersEvgenia Sklirou, Ahmad N Alodaib, Steven F Dobrowolski, et al.
Pageof 6