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Molecular Genetics and Metabolism|November 13, 2025
Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years-Admissions and complicationsKimberly A Chapman, Nicholas Ah Mew, Nina Mickle, et al.Molecular Genetics and Metabolism Reports|June 27, 2022
Maple syrup urine disease decompensation misdiagnosed as a psychotic eventTomoyasu Higashimoto, Matthew T Whitehead, Erin MacLeod, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 11, 2021
Pediatric medical genetics house call: Telemedicine for the next generation of patients and providersAndrea J Cohen, Natasha Shur, Danielle Starin, et al.Molecular Genetics and Metabolism|May 30, 2026
Resources and care structures for management of urea cycle disorders in Japan and the United States: A system-level comparisonYoko Nakajima, Erin MacLeod, Konomi Hirano, et al.JIMD Reports|September 10, 2019
Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formulaJulia A Sabatino, Danielle Starin, Shamir Tuchman, et al.The Application of Clinical Genetics|June 19, 2013
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatmentNicholas Ah Mew, Ljubica CaldovicPaediatric Drugs|September 21, 2025
Current Treatment Modalities for Urea Cycle DisordersNicholas Ah Mew, Uta Lichter-KoneckiPediatric Clinics of North America|March 6, 2018
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related DisordersMarshall L Summar, Nicholas Ah MewAmerican Journal of Medical Genetics. Part A|December 10, 2020
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysisMaxwell L Summerlin, Debra S Regier, Jamie L Fraser, et al.Journal of Pediatric Biochemistry|March 18, 2014
Stable isotopes in the diagnosis and treatment of inherited hyperammonemiaNicholas Ah Mew, Marc Yudkoff, Mendel TuchmanPageof 10