Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Nicholas Ah Mew

Showing results (1-10 of 56) with videos related to

Pageof 6
Sort By:
The Application of Clinical Genetics|June 19, 2013
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatmentNicholas Ah Mew, Ljubica Caldovic
Paediatric Drugs|September 21, 2025
Current Treatment Modalities for Urea Cycle DisordersNicholas Ah Mew, Uta Lichter-Konecki
Pediatric Clinics of North America|March 6, 2018
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related DisordersMarshall L Summar, Nicholas Ah Mew
Journal of Pediatric Biochemistry|March 18, 2014
Stable isotopes in the diagnosis and treatment of inherited hyperammonemiaNicholas Ah Mew, Marc Yudkoff, Mendel Tuchman
Molecular Genetics and Metabolism Reports|May 19, 2020
The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassificationNicole Ducich, Nicholas Ah Mew, Jirair K Bedoyan
Molecular Genetics and Metabolism|October 17, 2017
Propionyl-CoA carboxylase - A reviewParith Wongkittichote, Nicholas Ah Mew, Kimberly A Chapman
Orphanet Journal of Rare Diseases|December 8, 2018
Hyperammonaemia in classic organic acidaemias: a review of the literature and two case historiesJohannes Häberle, Anupam Chakrapani, Nicholas Ah Mew, et al.
Human Molecular Genetics|June 23, 2019
Progress and challenges in development of new therapies for urea cycle disordersLeandro R Soria, Nicholas Ah Mew, Nicola Brunetti-Pierri
Molecular Genetics and Metabolism|December 24, 2016
Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymesDashuang Shi, Gengxiang Zhao, Nicholas Ah Mew, et al.
American Journal of Medical Genetics. Part A|April 11, 2020
How a baby with classic galactosemia was nearly missed: When the test succeeds but system failsSarah Viall, Amy Calhoun, Nicholas Ah Mew, et al.
Pageof 6

Showing results (1-10 of 56) with videos related to

Sort By:
Pageof 6
The Application of Clinical Genetics|June 19, 2013
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatmentNicholas Ah Mew, Ljubica Caldovic
Paediatric Drugs|September 21, 2025
Current Treatment Modalities for Urea Cycle DisordersNicholas Ah Mew, Uta Lichter-Konecki
Pediatric Clinics of North America|March 6, 2018
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related DisordersMarshall L Summar, Nicholas Ah Mew
Journal of Pediatric Biochemistry|March 18, 2014
Stable isotopes in the diagnosis and treatment of inherited hyperammonemiaNicholas Ah Mew, Marc Yudkoff, Mendel Tuchman
Molecular Genetics and Metabolism Reports|May 19, 2020
The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassificationNicole Ducich, Nicholas Ah Mew, Jirair K Bedoyan
Molecular Genetics and Metabolism|October 17, 2017
Propionyl-CoA carboxylase - A reviewParith Wongkittichote, Nicholas Ah Mew, Kimberly A Chapman
Orphanet Journal of Rare Diseases|December 8, 2018
Hyperammonaemia in classic organic acidaemias: a review of the literature and two case historiesJohannes Häberle, Anupam Chakrapani, Nicholas Ah Mew, et al.
Human Molecular Genetics|June 23, 2019
Progress and challenges in development of new therapies for urea cycle disordersLeandro R Soria, Nicholas Ah Mew, Nicola Brunetti-Pierri
Molecular Genetics and Metabolism|December 24, 2016
Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymesDashuang Shi, Gengxiang Zhao, Nicholas Ah Mew, et al.
American Journal of Medical Genetics. Part A|April 11, 2020
How a baby with classic galactosemia was nearly missed: When the test succeeds but system failsSarah Viall, Amy Calhoun, Nicholas Ah Mew, et al.
Pageof 6