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Nicholas Ah Mew

Showing results (41-50 of 56) with videos related to

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Journal of Human Genetics|November 7, 2009
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populationsSanae Numata, Yoshiro Koda, Kenji Ihara, et al.
Molecular Genetics and Metabolism|October 4, 2011
Chronic management and health supervision of individuals with propionic acidemiaV Reid Sutton, Kimberly A Chapman, Andrea L Gropman, et al.
HGG Advances|October 18, 2025
Two commonly reported incidental variants in OTC are associated with late-onset diseaseSteven H Lang, Russell S Lo, Gareth A Cromie, et al.
Molecular Genetics and Metabolism|November 15, 2011
Neurologic considerations in propionic acidemiaJohn Schreiber, Kimberly A Chapman, Marshall L Summar, et al.
Molecular Genetics and Metabolism|October 12, 2011
Natural history of propionic acidemiaLoren Pena, Jill Franks, Kimberly A Chapman, et al.
Molecular Genetics and Metabolism|January 3, 2021
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disordersNicola Longo, George A Diaz, Uta Lichter-Konecki, et al.
Nature Reviews. Nephrology|April 10, 2020
Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapyRupesh Raina, Jirair K Bedoyan, Uta Lichter-Konecki, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseasesRoland Posset, Sven F Garbade, Nikolas Boy, et al.
Nature Genetics|March 14, 2017
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformationsXia Wang, Wu-Lin Charng, Chun-An Chen, et al.
Translational Science of Rare Diseases|January 8, 2019
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate ConsortiumNicholas Ah Mew, Avital Cnaan, Robert McCarter, et al.
Pageof 6

Showing results (41-50 of 56) with videos related to

Sort By:
Pageof 6
Journal of Human Genetics|November 7, 2009
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populationsSanae Numata, Yoshiro Koda, Kenji Ihara, et al.
Molecular Genetics and Metabolism|October 4, 2011
Chronic management and health supervision of individuals with propionic acidemiaV Reid Sutton, Kimberly A Chapman, Andrea L Gropman, et al.
HGG Advances|October 18, 2025
Two commonly reported incidental variants in OTC are associated with late-onset diseaseSteven H Lang, Russell S Lo, Gareth A Cromie, et al.
Molecular Genetics and Metabolism|November 15, 2011
Neurologic considerations in propionic acidemiaJohn Schreiber, Kimberly A Chapman, Marshall L Summar, et al.
Molecular Genetics and Metabolism|October 12, 2011
Natural history of propionic acidemiaLoren Pena, Jill Franks, Kimberly A Chapman, et al.
Molecular Genetics and Metabolism|January 3, 2021
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disordersNicola Longo, George A Diaz, Uta Lichter-Konecki, et al.
Nature Reviews. Nephrology|April 10, 2020
Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapyRupesh Raina, Jirair K Bedoyan, Uta Lichter-Konecki, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseasesRoland Posset, Sven F Garbade, Nikolas Boy, et al.
Nature Genetics|March 14, 2017
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformationsXia Wang, Wu-Lin Charng, Chun-An Chen, et al.
Translational Science of Rare Diseases|January 8, 2019
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate ConsortiumNicholas Ah Mew, Avital Cnaan, Robert McCarter, et al.
Pageof 6