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Last Name

Ah Mew, Nicholas

TitleAssistant Professor
InstitutionChildrens National Medical Center
DepartmentGenetics and Metabolism
Address111 Michigan Ave NW
Washington DC 20010
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    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Jang YJ, LaBella AL, Feeney TP, Braverman N, Tuchman M, Morizono H, Ah Mew N, Caldovic L. Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene. Hum Mutat. 2018 04; 39(4):527-536. PMID: 29282796.
      View in: PubMed
    2. Viall S, Ayyub O, Rasberry M, Lyons K, Ah Mew N. "Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening. Mol Genet Metab. 2017 12; 122(4):153-155. PMID: 29102225.
      View in: PubMed
    3. Wongkittichote P, Ah Mew N, Chapman KA. Propionyl-CoA carboxylase - A review. Mol Genet Metab. 2017 12; 122(4):145-152. PMID: 29033250.
      View in: PubMed
    4. Weinstein V, Tanpaiboon P, Chapman KA, Ah Mew N, Hofherr S. Do the data really support ordering fragile X testing as a first-tier test without clinical features? Genet Med. 2017 12; 19(12):1317-1322. PMID: 28541279.
      View in: PubMed
    5. Ayyub OB, Hofherr S, Cusmano-Ozog K, Ah Mew N. Time-dependent negative bias in plasma ammonia samples in a clinical setting. Clin Chim Acta. 2017 Aug; 471:126-127. PMID: 28595139.
      View in: PubMed
    6. Shi D, Zhao G, Ah Mew N, Tuchman M. Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes. Mol Genet Metab. 2017 03; 120(3):198-206. PMID: 28007335.
      View in: PubMed
    7. Viall S, Jain S, Chapman K, Ah Mew N, Summar M, Kirmse B. Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States. Mol Genet Metab. 2015 Dec; 116(4):226-30. PMID: 26549574.
      View in: PubMed
    8. Ah Mew N, McCarter R, Daikhin Y, Lichter-Konecki U, Nissim I, Yudkoff M, Tuchman M. Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate. J Pediatr. 2014 Aug; 165(2):401-403.e3. PMID: 24880889; PMCID: PMC4111993.
    9. Cartagena A, Prasad AN, Rupar CA, Strong M, Tuchman M, Ah Mew N, Prasad C. Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults. Can J Neurol Sci. 2013 Jan; 40(1):3-9. PMID: 23250120; PMCID: PMC4131410.
    10. Ah Mew N, Krivitzky L, McCarter R, Batshaw M, Tuchman M. Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ. J Pediatr. 2013 Feb; 162(2):324-9.e1. PMID: 22901741; PMCID: PMC4440324.
    11. Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, MacLeod E, Stagni K, Ueda K, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A, Gropman AL. Neurologic considerations in propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):10-5. PMID: 22078457.
      View in: PubMed
    12. Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Pena L, Smith B, Sutton VR, Urv T, Venditti C, Chakrapani A. Acute management of propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):16-25. PMID: 22000903.
      View in: PubMed
    13. Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, Island E, MacLeod E, Matern D, Smith B, Stagni K, Sutton VR, Ueda K, Urv T, Venditti C, Enns GM, Summar ML. Natural history of propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):5-9. PMID: 21986446.
      View in: PubMed
    14. Sutton VR, Chapman KA, Gropman AL, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A. Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):26-33. PMID: 21963082.
      View in: PubMed
    15. Heibel SK, Ah Mew N, Caldovic L, Daikhin Y, Yudkoff M, Tuchman M. 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 therapy. Hum Mutat. 2011 Oct; 32(10):1153-60. PMID: 21681857; PMCID: PMC3976964.
    16. Ah Mew N, Caldovic L. N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment. Appl Clin Genet. 2011; 4:127-35. PMID: 23776373; PMCID: PMC3681184.
    17. Ah Mew N, Loewenstein JB, Kadom N, Lichter-Konecki U, Gropman AL, Martin JM, Vanderver A. MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency. Pediatr Neurol. 2011 Jul; 45(1):57-9. PMID: 21723463; PMCID: PMC3129538.
    18. Ah Mew N, McCarter R, Daikhin Y, Nissim I, Yudkoff M, Tuchman M. N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia. Pediatrics. 2010 Jul; 126(1):e208-14. PMID: 20566609; PMCID: PMC3297024.
    19. Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M. N-acetylglutamate synthase: structure, function and defects. Mol Genet Metab. 2010; 100 Suppl 1:S13-9. PMID: 20303810; PMCID: PMC2876818.
    20. Yudkoff M, Ah Mew N, Daikhin Y, Horyn O, Nissim I, Nissim I, Payan I, Tuchman M. Measuring in vivo ureagenesis with stable isotopes. Mol Genet Metab. 2010; 100 Suppl 1:S37-41. PMID: 20338795; PMCID: PMC2858793.
    21. Numata S, Koda Y, Ihara K, Sawada T, Okano Y, Matsuura T, Endo F, Yoo HW, Arranz JA, Rubio V, Wermuth B, Ah Mew N, Tuchman M, Pinner JR, Kirk EP, Yoshino M. Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations. J Hum Genet. 2010 Jan; 55(1):18-22. PMID: 19893582.
      View in: PubMed
    22. Parente F, Ah Mew N, Jaeken J, Gilfix BM. A new capillary zone electrophoresis method for the screening of congenital disorders of glycosylation (CDG). Clin Chim Acta. 2010 Jan; 411(1-2):64-6. PMID: 19840782.
      View in: PubMed
    23. Ah Mew N, Payan I, Daikhin Y, Nissim I, Nissim I, Tuchman M, Yudkoff M. Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis. Mol Genet Metab. 2009 Dec; 98(4):325-30. PMID: 19660971; PMCID: PMC2784258.
    24. Campeau PM, Ah Mew N, Cartier L, Mackay KL, Shaffer LG, Der Kaloustian VM, Thomas MA. Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature. Am J Med Genet A. 2008 Dec 01; 146A(23):3062-9. PMID: 19006213.
      View in: PubMed
    25. Ah Mew N, Hamel N, Galvez M, Al-Saffar M, Foulkes WD. Haplotype analysis of a BRCA1: 185delAG mutation in a Chilean family supports its Ashkenazi origins. Clin Genet. 2002 Aug; 62(2):151-6. PMID: 12220453.
      View in: PubMed
    26. Kreisman SH, Ah Mew N, Halter JB, Vranic M, Marliss EB. Norepinephrine infusion during moderate-intensity exercise increases glucose production and uptake. J Clin Endocrinol Metab. 2001 May; 86(5):2118-24. PMID: 11344216.
      View in: PubMed
    27. Kreisman SH, Ah Mew N, Arsenault M, Nessim SJ, Halter JB, Vranic M, Marliss EB. Epinephrine infusion during moderate intensity exercise increases glucose production and uptake. Am J Physiol Endocrinol Metab. 2000 May; 278(5):E949-57. PMID: 10780953.
      View in: PubMed
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