NicholasAh MewMD

PubMed

• 2 citations
  Domino liver transplantation: Expanding the liver donor pool to the pediatric recipient.
  Udeme D Ekong, Sahithi Reddy, Nada Yazigi, Khalid Khan, Stuart Kaufman, Kimberly A Chapman, Eyby Leon, Nicholas Ah Mew, Debra Regier, Erin MacLeod, Alexander Kroemer, ...> ;Liver Transplantation. 2022 Dec 1
• 7 citations
  The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
  Smitha Kumble, Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane-Yeboa, Paul J. Benke, Sara M. Berger, Lise Bjerglund, Belinda Campos-Xavier, Michae...> ;Human Mutation. 2021 Dec 2
• Correction to: 1-C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
  Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, Jennifer L Sloan, Jack Gagné, Samantha McCoy, Sarah L Bell, Jacob D Hattenbach, Brooks P Leitner, Courtney J Du...> ;Genetics in Medicine. 2021 Nov 1
• 8 citations
  1-C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
  Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, Jennifer L Sloan, Jack Gagné, Samantha McCoy, Sarah L Bell, Jacob D Hattenbach, Brooks P Leitner, Courtney J Du...> ;Genetics in Medicine. 2021 Aug 1
• 7 citations
  Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening.
  Ryan H. Peretz, Nicholas Ah Mew, Hilary J. Vernon, Rebecca D. Ganetzky> ;Molecular Genetics and Metabolism. 2021 Jun 24
• 11 citations
  Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
  Nicola Longo, George A. Diaz, Uta Lichter-Konecki, Andreas Schulze, Michal Inbar-Feigenberg, Robert L. Conway, Allison A. Bannick, Shawn E. McCandless, Roberto T. Zori...> ;Molecular Genetics and Metabolism. 2021 Jan 1
• 4 citations
  Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
  Maxwell L Summerlin, Debra S Regier, Jamie L. Fraser, Kimberly A. Chapman, Dariush Kafashzadeh, Charles J. Billington, Monisha S. Kisling, Angela Grochowsky, Nicholas ...> ;American Journal of Medical Genetics. Part A. 2020 Dec 10
• A pandemic will not stop metabolic innovation.
  Erin L. MacLeod, Danielle Starin, Nicholas Ah Mew, Debra S Regier> ;Molecular Genetics and Metabolism. 2020 May 22
• 1 citations
  The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification
  Nicholas Ah Mew, Jirair K. Bedoyan, Nicole Ducich> ;Molecular Genetics and Metabolism Reports. 2020 May 8
• 1 citations
  How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails.
  Sarah Viall, Amy Calhoun, Nicholas Ah Mew, Beth A Tarini> ;American Journal of Medical Genetics. Part A. 2020 Apr 10
• 38 citations
  Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy.
  Rupesh Raina, Jirair K. Bedoyan, Uta Lichter-Konecki, Philippe Jouvet, Stefano Picca, Nicholas Ah Mew, Marcel Cerqueira César Machado, Ronith Chakraborty, Meghana Vemu...> ;Nature Reviews. Nephrology. 2020 Apr 8
• 6 citations
  Choosing Between Medical Management and Liver Transplant in Urea Cycle Disorders – A Conceptual Framework for Parental Treatment Decision‐Making in Rare Disease
  Maya Gerstein, Anne Rossier Markus, Kan Z. Gianattasio, Cynthia Le Mons, Janice Bartos, David M. Stevens, Nicholas Ah Mew> ;Journal of Inherited Metabolic Disease. 2020 Jan 13
• 4 citations
  Unusual Cystic Fibrosis Transmembrane Conductance Regulator Mutations and Liver Disease: A Case Series and Review of the Literature.
  Hamza Hassan Khan, N.A. Mew, Stuart S. Kaufman, Nada Yazigi, Thomas M. Fishbein, Khalid Khan> ;Transplantation Proceedings. 2019 Apr 1
• 32 citations
  Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.
  Johannes Häberle, Anupam Chakrapani, Nicholas Ah Mew, Nicola Longo> ;Orphanet Journal of Rare Diseases. 2018 Dec 6
• 32 citations
  Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases
  Roland Posset, Sven F. Garbade, Nikolas Boy, Alberto Burlina, Carlo Dionisi-Vici, Dries Dobbelaere, Angeles Garcia-Cazorla, Pascale de Lonlay, Elisa Leão Teles, Roshni...> ;Journal of Inherited Metabolic Disease. 2018 Jul 4
• Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases.
  Posset, R.,Garbade, S. F.,Boy, N.,Burlina, A. B.,Dionisi-Vici, C.,Dobbelaere, D.,Garcia-Cazorla, A.,de Lonlay, P.,Teles, E. L.,Vara, R.,Ah Mew, N.,Batshaw, M. L.,Baumg...> ;J. Inherit. Metab. Dis.. 2018 Jul 06
• 49 citations
  Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.
  Marshall L. Summar, Nicholas Ah Mew> ;Pediatric Clinics of North America. 2018 Feb 2
• 25 citations
  Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.
  Yoon J. Jang, Abigail L. LaBella, Timothy Feeney, Nancy Braverman, Mendel Tuchman, Hiroki Morizono, Nicholas Ah Mew, Ljubica Caldovic> ;Human Mutation. 2018 Apr 1
• 7 citations
  “Mild” hyperphenylalaninemia? A case series of seven treated patients following newborn screening
  Sarah Viall, Omar B. Ayyub, Matthew Rasberry, Kelly Lyons, Nicholas Ah Mew> ;Molecular Genetics and Metabolism. 2017 Dec 1
• 115 citations
  Propionyl-CoA carboxylase – A review
  Parith Wongkittichote, Nicholas Ah Mew, Kimberly A. Chapman> ;Molecular Genetics and Metabolism. 2017 Oct 7
• 1 citations
  Time-dependent negative bias in plasma ammonia samples in a clinical setting.
  Omar B. Ayyub, Sean E. Hofherr, Kristina Cusmano-Ozog, Nicholas Ah Mew> ;Clinica Chimica Acta; International Journal of Clinical Chemistry. 2017 May 10
• 13 citations
  Do the data really support ordering fragile X testing as a first-tier test without clinical features?
  Veronique Weinstein, Pranoot Tanpaiboon, Kimberly A. Chapman, Nicholas Ah Mew, Sean E. Hofherr> ;Genetics in Medicine. 2017 May 25
• 33 citations
  Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations
  Xia Wang, Wu Lin Charng, Chun-An Chen, Jill A. Rosenfeld, Aisha Al Shamsi, Lihadh Al-Gazali, Marianne McGuire, Nicholas Ah Mew, Georgianne L. Arnold, Chunjing Qu, Yan ...> ;Nature Genetics. 2017 Apr 1
• 9 citations
  Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.
  Dashuang Shi, Gengxiang Zhao, Nicholas Ah Mew, Mendel Tuchman> ;Molecular Genetics and Metabolism. 2017 Mar 1
• 11 citations
  Stable isotopes in the diagnosis and treatment of inherited hyperammonemia
  Nicholas Ah Mew, Marc Yudkoff, Mendel Tuchman> ;Journal of Pediatric Biochemistry. 2016 Aug 3
• Join now to see all