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Items: 1 to 20 of 120

1.

Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation.

Bates TR, Lewis BD, Burnett JR, So K, Mitchell A, Delriviere L, Jeffrey GP.

Liver Transpl. 2011 Dec;17(12):1481-4. doi: 10.1002/lt.22407.

2.

Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.

Laemmle A, Hahn D, Hu L, Rüfenacht V, Gautschi M, Leibundgut K, Nuoffer JM, Häberle J.

Mol Genet Metab. 2015 Mar;114(3):438-44. doi: 10.1016/j.ymgme.2015.01.002. Epub 2015 Jan 24.

PMID:
25639153
3.

Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.

Choi R, Park HD, Yang M, Ki CS, Lee SY, Kim JW, Song J, Chang YS, Park WS.

Ann Lab Med. 2017 Jan;37(1):58-62. doi: 10.3343/alm.2017.37.1.58.

4.

Perioperative exacerbation of valproic acid-associated hyperammonemia: a clinical and genetic analysis.

Bezinover D, Postula M, Donahue K, Bentzen B, McInerney J, Janicki PK.

Anesth Analg. 2011 Oct;113(4):858-61. doi: 10.1213/ANE.0b013e318228a001. Epub 2011 Aug 4.

PMID:
21821508
5.

Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.

Martínez AI, Pérez-Arellano I, Pekkala S, Barcelona B, Cervera J.

Mol Genet Metab. 2010 Dec;101(4):311-23. doi: 10.1016/j.ymgme.2010.08.002. Epub 2010 Aug 6. Review.

PMID:
20800523
6.

Fatal hyperammonemia after renal transplant due to late-onset urea cycle deficiency: a case report.

Bezinover D, Douthitt L, McQuillan PM, Khan A, Dalal P, Stene J, Uemura T, Kadry Z, Janicki PK.

Transplant Proc. 2010 Jun;42(5):1982-5. doi: 10.1016/j.transproceed.2010.03.142.

PMID:
20620562
8.

Late-onset urea cycle disorder in adulthood unmasked by severe malnutrition.

Wells DL, Thomas JB, Sacks GS, Zouhary LA.

Nutrition. 2014 Jul-Aug;30(7-8):943-7. doi: 10.1016/j.nut.2013.12.011. Epub 2013 Dec 16.

PMID:
24985015
9.

A rare case of hyperammonemia complication of high-protein parenteral nutrition.

Pillai U, Kahlon R, Sondheimer J, Cadnapaphorncai P, Bhat Z.

JPEN J Parenter Enteral Nutr. 2013 Jan;37(1):134-7. doi: 10.1177/0148607112447815. Epub 2012 May 18.

PMID:
22610979
10.

Orthotopic liver transplantation for urea cycle enzyme deficiency.

Todo S, Starzl TE, Tzakis A, Benkov KJ, Kalousek F, Saheki T, Tanikawa K, Fenton WA.

Hepatology. 1992 Mar;15(3):419-22.

11.

Molecular diagnosis of urea cycle disorders: current global scenario.

Vaidyanathan K.

Indian J Biochem Biophys. 2013 Oct;50(5):357-62. Review.

PMID:
24772957
12.

Clinical features of carbamyl phosphate synthetase-I deficiency in an adult.

Call G, Seay AR, Sherry R, Qureshi IA.

Ann Neurol. 1984 Jul;16(1):90-3.

PMID:
6465866
13.

Unmasked adult-onset urea cycle disorders in the critical care setting.

Summar ML, Barr F, Dawling S, Smith W, Lee B, Singh RH, Rhead WJ, Sniderman King L, Christman BW.

Crit Care Clin. 2005 Oct;21(4 Suppl):S1-8. Review.

PMID:
16227111
14.

Headache and neuropsychic disorders in the puerperium: a case report with suspected deficiency of urea cycle enzymes.

Tonini MC, Bignamini V, Mattioli M.

Neurol Sci. 2011 May;32 Suppl 1:S157-9. doi: 10.1007/s10072-011-0518-3.

PMID:
21533735
15.

Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience.

Kim IK, Niemi AK, Krueger C, Bonham CA, Concepcion W, Cowan TM, Enns GM, Esquivel CO.

Pediatr Transplant. 2013 Mar;17(2):158-67. doi: 10.1111/petr.12041. Epub 2013 Jan 24.

PMID:
23347504
16.
17.

Urea cycle disorders: a life-threatening yet treatable cause of metabolic encephalopathy in adults.

Blair NF, Cremer PD, Tchan MC.

Pract Neurol. 2015 Feb;15(1):45-8. doi: 10.1136/practneurol-2014-000916. Epub 2014 Aug 14.

PMID:
25125564
18.

Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.

Ali EZ, Khalid MK, Yunus ZM, Yakob Y, Chin CB, Abd Latif K, Hock NL.

Eur J Pediatr. 2016 Mar;175(3):339-46. doi: 10.1007/s00431-015-2644-z. Epub 2015 Oct 6.

PMID:
26440671
19.

Prospective treatment of urea cycle disorders.

Maestri NE, Hauser ER, Bartholomew D, Brusilow SW.

J Pediatr. 1991 Dec;119(6):923-8.

PMID:
1720458
20.

Hepatic glutamine synthetase deficiency in fatal hyperammonemia after lung transplantation.

Tuchman M, Lichtenstein GR, Rajagopal BS, McCann MT, Furth EE, Bavaria J, Kaplan PB, Gibson JB, Berry GT.

Ann Intern Med. 1997 Sep 15;127(6):446-9.

PMID:
9313001

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