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Janet A Thomas

Showing results (21-30 of 26) with videos related to

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Molecular Genetics and Metabolism|November 1, 2008
Management of a patient with holocarboxylase synthetase deficiencyJohan L K Van Hove, Sagi Josefsberg, Cynthia Freehauf, et al.
Mitochondrion|January 11, 2015
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processingKathryn C Chatfield, Curtis R Coughlin, Marisa W Friederich, et al.
Nature Metabolism|September 28, 2023
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trialJerry Vockley, Neal Sondheimer, Marja Puurunen, et al.
Molecular Genetics and Metabolism|May 14, 2021
REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseasesKimberly A Kripps, Peter R Baker, Janet A Thomas, et al.
Journal of Inherited Metabolic Disease|March 16, 2019
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trialJohan L K Van Hove, Cynthia L Freehauf, Can Ficicioglu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension StudyFrancjan van Spronsen, Heidi Peters, Lali Margvelashvili, et al.
Pageof 3

Showing results (21-30 of 26) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
Molecular Genetics and Metabolism|November 1, 2008
Management of a patient with holocarboxylase synthetase deficiencyJohan L K Van Hove, Sagi Josefsberg, Cynthia Freehauf, et al.
Mitochondrion|January 11, 2015
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processingKathryn C Chatfield, Curtis R Coughlin, Marisa W Friederich, et al.
Nature Metabolism|September 28, 2023
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trialJerry Vockley, Neal Sondheimer, Marja Puurunen, et al.
Molecular Genetics and Metabolism|May 14, 2021
REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseasesKimberly A Kripps, Peter R Baker, Janet A Thomas, et al.
Journal of Inherited Metabolic Disease|March 16, 2019
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trialJohan L K Van Hove, Cynthia L Freehauf, Can Ficicioglu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension StudyFrancjan van Spronsen, Heidi Peters, Lali Margvelashvili, et al.
Pageof 3