Ah Mew N - Search Results

1

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

Ah Mew N, Krivitzky L, McCarter R, Batshaw M, Tuchman M; Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network. Ah Mew N, et al. J Pediatr. 2013 Feb;162(2):324-9.e1. doi: 10.1016/j.jpeds.2012.06.065. Epub 2012 Aug 15. J Pediatr. 2013. PMID: 22901741 Free PMC article.

2

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

Ah Mew N, Payan I, Daikhin Y, Nissim I, Nissim I, Tuchman M, Yudkoff M. Ah Mew N, et al. Mol Genet Metab. 2009 Dec;98(4):325-30. doi: 10.1016/j.ymgme.2009.07.010. Epub 2009 Jul 14. Mol Genet Metab. 2009. PMID: 19660971 Free PMC article. Clinical Trial.

3

N-acetylglutamate synthase: structure, function and defects.

Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M. Caldovic L, et al. Among authors: ah mew n. Mol Genet Metab. 2010;100 Suppl 1(Suppl 1):S13-9. doi: 10.1016/j.ymgme.2010.02.018. Epub 2010 Feb 26. Mol Genet Metab. 2010. PMID: 20303810 Free PMC article. Review.

4

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

Ah Mew N, McCarter R, Daikhin Y, Nissim I, Yudkoff M, Tuchman M. Ah Mew N, et al. Pediatrics. 2010 Jul;126(1):e208-14. doi: 10.1542/peds.2010-0008. Epub 2010 Jun 21. Pediatrics. 2010. PMID: 20566609 Free PMC article. Clinical Trial.

5

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.

Heibel SK, Ah Mew N, Caldovic L, Daikhin Y, Yudkoff M, Tuchman M. Heibel SK, et al. Among authors: ah mew n. Hum Mutat. 2011 Oct;32(10):1153-60. doi: 10.1002/humu.21553. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21681857 Free PMC article.

6

MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.

Ah Mew N, Loewenstein JB, Kadom N, Lichter-Konecki U, Gropman AL, Martin JM, Vanderver A. Ah Mew N, et al. Pediatr Neurol. 2011 Jul;45(1):57-9. doi: 10.1016/j.pediatrneurol.2011.02.003. Pediatr Neurol. 2011. PMID: 21723463 Free PMC article.

7

Acute management of propionic acidemia.

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. Chapman KA, et al. Among authors: ah mew n. Mol Genet Metab. 2012 Jan;105(1):16-25. doi: 10.1016/j.ymgme.2011.09.026. Epub 2011 Sep 24. Mol Genet Metab. 2012. PMID: 22000903 Free PMC article. Review.

8

Neurologic considerations in propionic acidemia.

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. Schreiber J, et al. Among authors: ah mew n. Mol Genet Metab. 2012 Jan;105(1):10-5. doi: 10.1016/j.ymgme.2011.10.003. Epub 2011 Oct 19. Mol Genet Metab. 2012. PMID: 22078457 Review.

9

Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.

Cartagena A, Prasad AN, Rupar CA, Strong M, Tuchman M, Ah Mew N, Prasad C. Cartagena A, et al. Among authors: ah mew n. Can J Neurol Sci. 2013 Jan;40(1):3-9. doi: 10.1017/s0317167100012877. Can J Neurol Sci. 2013. PMID: 23250120 Free PMC article. Review.

10

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

Ah Mew N, McCarter R, Daikhin Y, Lichter-Konecki U, Nissim I, Yudkoff M, Tuchman M. Ah Mew N, et al. J Pediatr. 2014 Aug;165(2):401-403.e3. doi: 10.1016/j.jpeds.2014.04.012. Epub 2014 May 29. J Pediatr. 2014. PMID: 24880889 Free PMC article. Clinical Trial.

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