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Nicholas Ah Mew

Showing results (21-30 of 56) with videos related to

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Pediatrics|June 23, 2010
N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemiaNicholas Ah Mew, Robert McCarter, Yevgeny Daikhin, et al.
Molecular Genetics and Metabolism|November 10, 2015
Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United StatesSarah Viall, Sneha Jain, Kimberly Chapman, et al.
Molecular Genetics and Metabolism|March 23, 2010
N-acetylglutamate synthase: structure, function and defectsLjubica Caldovic, Nicholas Ah Mew, Dashuang Shi, et al.
Human Mutation|June 18, 2011
N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapySandra K Heibel, Nicholas Ah Mew, Ljubica Caldovic, et al.
Molecular Genetics and Metabolism|August 8, 2009
Effects of a single dose of N-carbamylglutamate on the rate of ureagenesisNicholas Ah Mew, Irma Payan, Yevgeny Daikhin, et al.
Pediatric Neurology|May 24, 2024
Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial DisorderElizabeth Pickup, Steven A Moore, Pim Suwannarat, et al.
The Journal of Pediatrics|June 2, 2014
Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamateNicholas Ah Mew, Robert McCarter, Yevgeny Daikhin, et al.
Molecular Genetics and Metabolism|March 27, 2010
Measuring in vivo ureagenesis with stable isotopesMarc Yudkoff, Nicholas Ah Mew, Yevgeny Daikhin, et al.
Pediatric Neurology|July 5, 2011
MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiencyNicholas Ah Mew, Johanna B Loewenstein, Nadja Kadom, et al.
Journal of Inherited Metabolic Disease|December 29, 2019
Choosing between medical management and liver transplant in urea cycle disorders: A conceptual framework for parental treatment decision-making in rare diseaseMaya T Gerstein, Anne R Markus, Kan Z Gianattasio, et al.
Pageof 6

Showing results (21-30 of 56) with videos related to

Sort By:
Pageof 6
Pediatrics|June 23, 2010
N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemiaNicholas Ah Mew, Robert McCarter, Yevgeny Daikhin, et al.
Molecular Genetics and Metabolism|November 10, 2015
Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United StatesSarah Viall, Sneha Jain, Kimberly Chapman, et al.
Molecular Genetics and Metabolism|March 23, 2010
N-acetylglutamate synthase: structure, function and defectsLjubica Caldovic, Nicholas Ah Mew, Dashuang Shi, et al.
Human Mutation|June 18, 2011
N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapySandra K Heibel, Nicholas Ah Mew, Ljubica Caldovic, et al.
Molecular Genetics and Metabolism|August 8, 2009
Effects of a single dose of N-carbamylglutamate on the rate of ureagenesisNicholas Ah Mew, Irma Payan, Yevgeny Daikhin, et al.
Pediatric Neurology|May 24, 2024
Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial DisorderElizabeth Pickup, Steven A Moore, Pim Suwannarat, et al.
The Journal of Pediatrics|June 2, 2014
Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamateNicholas Ah Mew, Robert McCarter, Yevgeny Daikhin, et al.
Molecular Genetics and Metabolism|March 27, 2010
Measuring in vivo ureagenesis with stable isotopesMarc Yudkoff, Nicholas Ah Mew, Yevgeny Daikhin, et al.
Pediatric Neurology|July 5, 2011
MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiencyNicholas Ah Mew, Johanna B Loewenstein, Nadja Kadom, et al.
Journal of Inherited Metabolic Disease|December 29, 2019
Choosing between medical management and liver transplant in urea cycle disorders: A conceptual framework for parental treatment decision-making in rare diseaseMaya T Gerstein, Anne R Markus, Kan Z Gianattasio, et al.
Pageof 6