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Nature Metabolism
|
August 16, 2022
Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study
Marja K Puurunen, Jerry Vockley, Shawn L Searle, et al.
Human Molecular Genetics
|
May 10, 2023
Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model
Xue-Jun Zhao, Ai-Walid Mohsen, Stephanie Mihalik, et al.
Human Molecular Genetics
|
February 28, 2015
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency
Manuel Schiff, Birgit Haberberger, Chuanwu Xia, et al.
Molecular Genetics and Metabolism
|
July 22, 2019
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients
George A Diaz, Andreas Schulze, Nicola Longo, et al.
The American Journal of Psychiatry
|
August 16, 2016
Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior
Lisa A Pan, Petra Martin, Thomas Zimmer, et al.
The Journal of Biological Chemistry
|
March 5, 2014
Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction
Eric S Goetzman, John F Alcorn, Sivakama S Bharathi, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation
Yutaka Furuta, Kaitlyn N Bloom, Jerry Vockley, et al.
The Journal of Pediatrics
|
March 6, 2009
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study
Friedrich K Trefz, Barbara K Burton, Nicola Longo, et al.
Molecular Genetics and Metabolism
|
June 29, 2013
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism
Kathryn M Camp, Michele A Lloyd-Puryear, Lynne Yao, et al.
Orphanet Journal of Rare Diseases
|
March 10, 2026
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study
Bernd C Schwahn, Gerard T Berry, Hilary J Vernon, et al.
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of 30
Search research articles
Search
Showing results (261-270 of 295) with videos related to
Sort By:
Page
of 30
Nature Metabolism
|
August 16, 2022
Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study
Marja K Puurunen, Jerry Vockley, Shawn L Searle, et al.
Human Molecular Genetics
|
May 10, 2023
Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model
Xue-Jun Zhao, Ai-Walid Mohsen, Stephanie Mihalik, et al.
Human Molecular Genetics
|
February 28, 2015
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency
Manuel Schiff, Birgit Haberberger, Chuanwu Xia, et al.
Molecular Genetics and Metabolism
|
July 22, 2019
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients
George A Diaz, Andreas Schulze, Nicola Longo, et al.
The American Journal of Psychiatry
|
August 16, 2016
Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior
Lisa A Pan, Petra Martin, Thomas Zimmer, et al.
The Journal of Biological Chemistry
|
March 5, 2014
Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction
Eric S Goetzman, John F Alcorn, Sivakama S Bharathi, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation
Yutaka Furuta, Kaitlyn N Bloom, Jerry Vockley, et al.
The Journal of Pediatrics
|
March 6, 2009
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study
Friedrich K Trefz, Barbara K Burton, Nicola Longo, et al.
Molecular Genetics and Metabolism
|
June 29, 2013
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism
Kathryn M Camp, Michele A Lloyd-Puryear, Lynne Yao, et al.
Orphanet Journal of Rare Diseases
|
March 10, 2026
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study
Bernd C Schwahn, Gerard T Berry, Hilary J Vernon, et al.
Page
of 30