Nicholas Ah Mew

Nicholas Ah Mew

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Nicholas Ah Mew

Nicholas Ah Mew

Publications by authors named "Nicholas Ah Mew"

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31Publications

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Progress and challenges in development of new therapies for urea cycle disorders.

Hum Mol Genet 2019 Jun 22. Epub 2019 Jun 22.

Telethon Institute of Genetics and Medicine, Pozzuoli 80078, Italy.

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http://dx.doi.org/10.1093/hmg/ddz140DOI Listing
June 2019

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.

Orphanet J Rare Dis 2018 12 6;13(1):219. Epub 2018 Dec 6.

Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, 30 N 1900 E, Salt Lake City, UT, 84132, USA.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0963-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282273PMC
December 2018

Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.

Hum Mutat 2018 04 16;39(4):527-536. Epub 2018 Jan 16.

Center for Genetic Medicine Research, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1002/humu.23394DOI Listing
April 2018

Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.

Pediatr Clin North Am 2018 04 2;65(2):231-246. Epub 2018 Feb 2.

Rare Disease Institute, Children's National Medical Center, 111 Michigan Avenue Northwest, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.pcl.2017.11.004DOI Listing
April 2018

Do the data really support ordering fragile X testing as a first-tier test without clinical features?

Genet Med 2017 12 25;19(12):1317-1322. Epub 2017 May 25.

Division of Laboratory Medicine, Children's National Health System, Washington, DC, USA.

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http://dx.doi.org/10.1038/gim.2017.64DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702277PMC
December 2017

Propionyl-CoA carboxylase - A review.

Mol Genet Metab 2017 12 7;122(4):145-152. Epub 2017 Oct 7.

Children's National Health System, Division of Genetics and Metabolism, United States; Rare Diseases Institute, Division of Genetics and Metabolism, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5725275PMC
December 2017

"Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening.

Mol Genet Metab 2017 12 20;122(4):153-155. Epub 2017 Oct 20.

Division of Genetics and Metabolism, Childrens' National Health System, Washington, DC, United States.

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http://dx.doi.org/10.1016/j.ymgme.2017.10.010DOI Listing
December 2017

Time-dependent negative bias in plasma ammonia samples in a clinical setting.

Clin Chim Acta 2017 Aug 10;471:126-127. Epub 2017 May 10.

Children's National Medical Center, Washington, DC, United States.

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http://dx.doi.org/10.1016/j.cca.2017.05.011DOI Listing
August 2017

Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.

Mol Genet Metab 2017 03 8;120(3):198-206. Epub 2016 Dec 8.

Center for Genetic Medicine Research, Department of Integrative Systems Biology, Children's Research Institute, Children's National Health System, The George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2016.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346444PMC
March 2017

Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States.

Mol Genet Metab 2015 Dec 4;116(4):226-30. Epub 2015 Nov 4.

Children's National Health System and George Washington University, Washington, DC, United States; University of Mississippi Medical Center, Jackson, MS, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153007
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http://dx.doi.org/10.1016/j.ymgme.2015.11.002DOI Listing
December 2015

Deconstructing Black Swans: An Introductory Approach to Inherited Metabolic Disorders in the Neonate.

Adv Neonatal Care 2015 Aug;15(4):241-7; quiz E1-2

Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1097/ANC.0000000000000206DOI Listing
August 2015

Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.

J Pediatr 2014 Aug 29;165(2):401-403.e3. Epub 2014 May 29.

Center for Genetic Medicine Research, Children's National Health System, The George Washington University, Washington, DC.

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http://dx.doi.org/10.1016/j.jpeds.2014.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4111993PMC
August 2014

Stable isotopes in the diagnosis and treatment of inherited hyperammonemia.

J Pediatr Biochem 2014 Jan;4(1):57-63

Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.3233/JPB-140106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3952002PMC
January 2014

N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.

Appl Clin Genet 2011 24;4:127-35. Epub 2011 Aug 24.

Center for Genetic Medicine Research, Children's Research institute, Children's National Medical Center, Washington DC, USA.

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http://dx.doi.org/10.2147/TACG.S12702DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681184PMC
June 2013

Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ.

J Pediatr 2013 Feb 15;162(2):324-9.e1. Epub 2012 Aug 15.

Center for Genetic Medicine and Center for Clinical and Community Research, Children's National Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.1016/j.jpeds.2012.06.065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4440324PMC
February 2013

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 9;32(10):1153-60. Epub 2011 Sep 9.

Research Center for Genetic Medicine, Children's National Medical Center, The George Washington University, Washington, DC, USA.

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http://dx.doi.org/10.1002/humu.21553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976964PMC
October 2011

N-acetylglutamate synthase: structure, function and defects.

Mol Genet Metab 2010 26;100 Suppl 1:S13-9. Epub 2010 Feb 26.

The Children's Research Institute, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2876818PMC
July 2010

Measuring in vivo ureagenesis with stable isotopes.

Mol Genet Metab 2010 26;100 Suppl 1:S37-41. Epub 2010 Feb 26.

Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.02.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858793PMC
July 2010

N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.

Pediatrics 2010 Jul 21;126(1):e208-14. Epub 2010 Jun 21.

Research Center for Genetic Medicine, Children's National Medical Center, George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.1542/peds.2010-0008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3297024PMC
July 2010

A new capillary zone electrophoresis method for the screening of congenital disorders of glycosylation (CDG).

Clin Chim Acta 2010 Jan 27;411(1-2):64-6. Epub 2009 Oct 27.

Department of Medical Genetics, MUHC-Montreal Children's Hospital, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.cca.2009.10.004DOI Listing
January 2010

Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis.

Mol Genet Metab 2009 Dec 14;98(4):325-30. Epub 2009 Jul 14.

Research Center for Genetic Medicine, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784258PMC
December 2009

Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature.

Am J Med Genet A 2008 Dec;146A(23):3062-9

Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32563DOI Listing
December 2008