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Results: 1 to 20 of 101

1.

30-year follow-up of a patient with classic citrullinemia.

Brunetti-Pierri N, Lamance KM, Lewis RA, Craigen WJ.

Mol Genet Metab. 2012 Jun;106(2):248-50. doi: 10.1016/j.ymgme.2012.03.011. Epub 2012 Mar 23.

PMID:
22494546
[PubMed - indexed for MEDLINE]
2.

Recovery from marked altered consciousness in a patient with adult-onset type II citrullinemia diagnosed by DNA analysis and treated with a living related partial liver transplantation.

Takashima Y, Koide M, Fukunaga H, Iwai M, Miura M, Yoneda R, Fukuda T, Kobayashi K, Saheki T.

Intern Med. 2002 Jul;41(7):555-60.

PMID:
12132524
[PubMed - indexed for MEDLINE]
Free Article
3.

Pregnancy in a healthy woman with untreated citrullinemia.

Potter MA, Zeesman S, Brennan B, Kobayashi K, Gao HZ, Tabata A, Saheki T, Whelan DT.

Am J Med Genet A. 2004 Aug 15;129A(1):77-82.

PMID:
15266621
[PubMed - indexed for MEDLINE]
4.

Successful prospective management of neonatal citrullinemia.

Go H, Imamura T, Hashimoto K, Ogasawara K, Sakamoto O, Takubo N, Momoi N, Hosoya M.

J Pediatr Endocrinol Metab. 2012;25(3-4):371-3.

PMID:
22768672
[PubMed - indexed for MEDLINE]
5.

Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma.

Tsai CW, Yang CC, Chen HL, Hwu WL, Wu MZ, Liu KL, Wu MS.

J Formos Med Assoc. 2006 Oct;105(10):852-6.

PMID:
17000460
[PubMed - indexed for MEDLINE]
6.

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.

Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A.

N Engl J Med. 2007 May 31;356(22):2282-92.

PMID:
17538087
[PubMed - indexed for MEDLINE]
Free Article
7.

A patient with adult-onset type II citrullinemia on long-term hemodialysis: reversal of clinical symptoms and brain MRI findings.

Oshiro S, Kochinda T, Tana T, Yamazato M, Kobayashi K, Komine Y, Muratani H, Saheki T, Iseki K, Takishita S.

Am J Kidney Dis. 2002 Jan;39(1):189-92.

PMID:
11774119
[PubMed - indexed for MEDLINE]
8.

Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2).

Yazaki M, Takei Y, Kobayashi K, Saheki T, Ikeda S.

Intern Med. 2005 Mar;44(3):188-95.

PMID:
15805705
[PubMed - indexed for MEDLINE]
Free Article
9.

Recurrent liver failure in a 25-year-old female.

Salek J, Byrne J, Box T, Longo N, Sussman N.

Liver Transpl. 2010 Sep;16(9):1049-53. doi: 10.1002/lt.22118.

PMID:
20818742
[PubMed - indexed for MEDLINE]
Free Article
10.

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
[PubMed - indexed for MEDLINE]
11.

Two cases of citrullinaemia presenting with stroke.

Choi JH, Kim H, Yoo HW.

J Inherit Metab Dis. 2006 Feb;29(1):182-3.

PMID:
16601887
[PubMed - indexed for MEDLINE]
12.

Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate.

Mutoh K, Kurokawa K, Kobayashi K, Saheki T.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S343-7. doi: 10.1007/s10545-008-0914-x. Epub 2008 Oct 29.

PMID:
18958581
[PubMed - indexed for MEDLINE]
13.

Transient fulminant liver failure as an initial presentation in citrullinemia type I.

Faghfoury H, Baruteau J, de Baulny HO, Häberle J, Schulze A.

Mol Genet Metab. 2011 Apr;102(4):413-7. doi: 10.1016/j.ymgme.2010.12.007. Epub 2010 Dec 16.

PMID:
21227727
[PubMed - indexed for MEDLINE]
14.

Neuropsychiatric manifestations in late-onset urea cycle disorder patients.

Serrano M, Martins C, Pérez-Dueñas B, Gómez-López L, Murgui E, Fons C, García-Cazorla A, Artuch R, Jara F, Arranz JA, Häberle J, Briones P, Campistol J, Pineda M, Vilaseca MA.

J Child Neurol. 2010 Mar;25(3):352-8. doi: 10.1177/0883073809340696. Epub 2009 Aug 14.

PMID:
19684305
[PubMed - indexed for MEDLINE]
15.

Percutaneous transluminal septal myocardial ablation in hypertrophic obstructive cardiomyopathy: acute results and 3-month follow-up in 25 patients.

Seggewiss H, Gleichmann U, Faber L, Fassbender D, Schmidt HK, Strick S.

J Am Coll Cardiol. 1998 Feb;31(2):252-8.

PMID:
9462563
[PubMed - indexed for MEDLINE]
Free Article
16.

Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.

Scaglia F, Carter S, O'Brien WE, Lee B.

Mol Genet Metab. 2004 Apr;81 Suppl 1:S79-85.

PMID:
15050979
[PubMed - indexed for MEDLINE]
17.

A neonatal case of citrullinemia with urolithiasis.

Ozkozaci T, Akin M, Atay Z, Uyanik B, Nuhoglu C, Ceran O.

Ann Saudi Med. 2004 Sep-Oct;24(5):399-400. No abstract available.

PMID:
15573861
[PubMed - indexed for MEDLINE]
18.

Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.

de Groot MJ, Cuppen M, Eling M, Verheijen FW, Rings EH, Reijngoud DJ, de Vries MM, van Spronsen FJ.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S413-6. doi: 10.1007/s10545-010-9207-2. Epub 2010 Sep 18.

PMID:
20852933
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Neonatal presentation of adult-onset type II citrullinemia.

Ohura T, Kobayashi K, Tazawa Y, Nishi I, Abukawa D, Sakamoto O, Iinuma K, Saheki T.

Hum Genet. 2001 Feb;108(2):87-90.

PMID:
11281457
[PubMed - indexed for MEDLINE]
20.

Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.

Tazawa Y, Kobayashi K, Ohura T, Abukawa D, Nishinomiya F, Hosoda Y, Yamashita M, Nagata I, Kono Y, Yasuda T, Yamaguchi N, Saheki T.

J Pediatr. 2001 May;138(5):735-40.

PMID:
11343052
[PubMed - indexed for MEDLINE]

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