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Items: 1 to 20 of 103

1.

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
2.

Urea cycle disorders in Thai infants: a report of 5 cases.

Wasant P, Srisomsap C, Liammongkolkul S, Svasti J.

J Med Assoc Thai. 2002 Aug;85 Suppl 2:S720-31.

PMID:
12403252
3.

Postpartum "psychosis" in mild argininosuccinate synthetase deficiency.

Enns GM, O'Brien WE, Kobayashi K, Shinzawa H, Pellegrino JE.

Obstet Gynecol. 2005 May;105(5 Pt 2):1244-6.

PMID:
15863597
4.

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
5.

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.

6.

Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol.

Karall D, Haberlandt E, Albrecht U, Rostasy K, Häberle J, Scholl-Bürgi S.

Neuropediatrics. 2012 Apr;43(2):59-63. doi: 10.1055/s-0032-1307453. Epub 2012 Apr 3.

PMID:
22473243
7.

Coma, hyperammonemia, metabolic acidosis, and mutation: lessons learned in the acute management of late onset urea cycle disorders.

Iyer H, Sen M, Prasad C, Rupar CA, Lindsay RM.

Hemodial Int. 2012 Jan;16(1):95-100. doi: 10.1111/j.1542-4758.2011.00591.x.

PMID:
22099885
8.

[Diagnosis and treatment of urea cycle disorders in adult patients].

Maillot F, Blasco H, Lioger B, Bigot A, Douillard C.

Rev Med Interne. 2016 Oct;37(10):680-684. doi: 10.1016/j.revmed.2016.02.011. Epub 2016 Mar 28. Review. French.

PMID:
27032484
9.

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
10.

Lysinuric protein intolerance presenting deficiency of argininosuccinate synthetase.

Ono N, Kishida K, Tokumoto K, Watanabe M, Shimada Y, Yoshinaga J, Fujii M.

Intern Med. 1992 Jan;31(1):55-9.

11.

Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.

Erez A, Nagamani SC, Lee B.

Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):45-53. doi: 10.1002/ajmg.c.30289. Epub 2011 Feb 10. Review.

12.

Threshold for toxicity from hyperammonemia in critically ill children.

Ozanne B, Nelson J, Cousineau J, Lambert M, Phan V, Mitchell G, Alvarez F, Ducruet T, Jouvet P.

J Hepatol. 2012 Jan;56(1):123-8. doi: 10.1016/j.jhep.2011.03.021. Epub 2011 May 18.

PMID:
21703182
13.

[Clinical and laboratory screening studies on urea cycle defects].

Yang YL, Sun F, Qian N, Song JQ, Wang S, Chang XZ, Yang HY, Wang SQ, Li L, Zhang YH, Bao XH, Li M, Qi Y, Qin J, Wu XR.

Zhonghua Er Ke Za Zhi. 2005 May;43(5):331-4. Chinese.

PMID:
15924745
14.

[A case of citrullinemia associated with isolated ACTH deficiency, rapidly developing coma].

Ishii A, Ohkoshi N, Oka Y, Ban S, Takahashi A.

Rinsho Shinkeigaku. 1992 Aug;32(8):853-8. Japanese.

PMID:
1337025
15.

Hyperammonemia due to a urea cycle enzyme deficiency in two dogs.

Strombeck DR, Meyer DJ, Freedland RA.

J Am Vet Med Assoc. 1975 Jun 1;166(11):1109-11.

PMID:
1133071
16.

Molecular diagnosis of urea cycle disorders: current global scenario.

Vaidyanathan K.

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

PMID:
24772957
17.

The incidence of urea cycle disorders.

Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, Kirmse B; European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). Electronic address: http://www.e-imd.org/en/index.phtml; Members of the Urea Cycle Disorders Consortium (UCDC). Electronic address: http://rarediseasesnetwork.epi.usf.edu/ucdc/.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):179-80. doi: 10.1016/j.ymgme.2013.07.008. Epub 2013 Jul 18.

18.

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
19.

Citrullinemia: quantitative deficiency of argininosuccinate synthetase in the liver.

Oyanagi K, Itakura Y, Tsuchiyama A, Nakao T, Nakano K, Saeki T.

Tohoku J Exp Med. 1986 Apr;148(4):385-91.

20.

Ammonia toxicity and its prevention in inherited defects of the urea cycle.

Walker V.

Diabetes Obes Metab. 2009 Sep;11(9):823-35. doi: 10.1111/j.1463-1326.2009.01054.x. Epub 2009 Jun 16. Review.

PMID:
19531057

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