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Items: 13

1.

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.

Cavicchi C, Chilleri C, Fioravanti A, Ferri L, Ripandelli F, Costa C, Calabresi P, Prontera P, Pochiero F, Pasquini E, Funghini S, la Marca G, Donati MA, Morrone A.

Int J Mol Sci. 2018 Jan 24;19(2). pii: E345. doi: 10.3390/ijms19020345. Review.

2.

Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.

Jiang Y, Almannai M, Sutton VR, Sun Q, Elsea SH.

Mol Genet Metab. 2017 Nov;122(3):39-45. doi: 10.1016/j.ymgme.2017.08.011. Epub 2017 Aug 31.

PMID:
28888854
3.

Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.

Diez-Fernandez C, Häberle J.

Expert Opin Ther Targets. 2017 Apr;21(4):391-399. doi: 10.1080/14728222.2017.1294685. Epub 2017 Feb 20. Review.

PMID:
28281899
4.

Citrulline for urea cycle disorders in Japan.

Tanaka K, Nakamura K, Matsumoto S, Kido J, Mitsubuchi H, Ohura T, Endo F.

Pediatr Int. 2017 Apr;59(4):422-426. doi: 10.1111/ped.13163. Epub 2016 Dec 22.

PMID:
27613354
5.

Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.

Waisbren SE, Gropman AL; Members of the Urea Cycle Disorders Consortium (UCDC), Batshaw ML.

J Inherit Metab Dis. 2016 Jul;39(4):573-84. doi: 10.1007/s10545-016-9942-0. Epub 2016 May 23.

6.

A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.

Takayanagi M.

J Hum Genet. 2015 Jul;60(7):347. doi: 10.1038/jhg.2015.38. Epub 2015 May 21. No abstract available.

PMID:
25994872
7.

Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.

Kim JH, Kim YM, Lee BH, Cho JH, Kim GH, Choi JH, Yoo HW.

J Hum Genet. 2015 Jul;60(7):395-7. doi: 10.1038/jhg.2015.30. Epub 2015 Mar 19.

PMID:
25787344
8.

Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn n-acetylglutamate synthase deficiency.

Schwob E, Hagos Y, Burckhardt G, Burckhardt BC.

Am J Physiol Renal Physiol. 2014 Dec 15;307(12):F1373-9. doi: 10.1152/ajprenal.00482.2014. Epub 2014 Oct 29.

9.

Low dose of carglumic acid for treatment of hyperammonemia due to N-acetylglutamate synthase deficiency.

Kiykim E, Zubarioglu T.

Indian Pediatr. 2014 Sep;51(9):755-6. No abstract available.

10.

Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency.

Tummolo A, Favia V, Bellantuono R, Bellino V, Ranieri A, Morrone A, De Palo T, Papadia F.

Pediatr Emerg Care. 2013 May;29(5):656-8. doi: 10.1097/PEC.0b013e31828ec2b9.

PMID:
23640148
11.

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

Cartagena A, Prasad AN, Rupar CA, Strong M, Tuchman M, Ah Mew N, Prasad C.

Can J Neurol Sci. 2013 Jan;40(1):3-9. Review.

12.

Dietary management of urea cycle disorders: UK practice.

Adam S, Champion H, Daly A, Dawson S, Dixon M, Dunlop C, Eardley J, Evans S, Ferguson C, Jankowski C, Lowry S, MacDonald A, Maritz C, Micciche A, Robertson L, Stafford J, Terry A, Thom R, van Wyk K, Webster D, White FJ, Wildgoose J; British Inherited Metabolic Diseases Group (BIMDG) Dietitian’s Group.

J Hum Nutr Diet. 2012 Aug;25(4):398-404. doi: 10.1111/j.1365-277X.2012.01259.x. Epub 2012 May 18.

PMID:
22594780
13.

Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.

Gessler P, Buchal P, Schwenk HU, Wermuth B.

Eur J Pediatr. 2010 Feb;169(2):197-9. doi: 10.1007/s00431-009-1006-0. Epub 2009 Jun 17.

PMID:
19533169

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