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Results: 1 to 20 of 28

1.

Acute hepatic decompensation precipitated by pregnancy-related catabolic stress: a rare mimic of acute liver failure.

Sinclair M, Ket S, Testro A, Gow PJ, Angus PW.

Obstet Gynecol. 2014 Feb;123(2 Pt 2 Suppl 2):480-3. doi: 10.1097/AOG.000000000000005.

PMID:
24413235
[PubMed - indexed for MEDLINE]
2.

Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy.

Karthikeyan G, Jagadeesh S, Seshadri S, Häberle J.

Indian Pediatr. 2013 Oct;50(10):965-6.

PMID:
24222285
[PubMed - indexed for MEDLINE]
Free Article
3.

Liver transplantation versus conservative treatment for adult-onset type II citrullinemia: our experience and a review of the literature.

Kimura N, Kubo N, Narumi S, Toyoki Y, Ishido K, Kudo D, Umehara M, Yakoshi Y, Hakamada K.

Transplant Proc. 2013 Nov;45(9):3432-7. doi: 10.1016/j.transproceed.2013.06.016. Review.

PMID:
24182831
[PubMed - indexed for MEDLINE]
4.

Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.

Chandler RJ, Tarasenko TN, Cusmano-Ozog K, Sun Q, Sutton VR, Venditti CP, McGuire PJ.

Gene Ther. 2013 Dec;20(12):1188-91. doi: 10.1038/gt.2013.53. Epub 2013 Oct 17.

PMID:
24131980
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Citrullinemia stimulation test in the evaluation of the intestinal function.

Pinto Costa B, Serôdio M, Simões M, Veríssimo C, Castro Sousa F, Grazina M.

Nutr Hosp. 2013 Jan-Feb;28(1):202-10. doi: 10.3305/nh.2013.28.1.6243.

PMID:
23808451
[PubMed - indexed for MEDLINE]
Free Article
6.

Fatigue and quality of life in citrin deficiency during adaptation and compensation stage.

Okano Y, Kobayashi K, Ihara K, Ito T, Yoshino M, Watanabe Y, Kaji S, Ohura T, Nagao M, Noguchi A, Mushiake S, Hohashi N, Hashimoto-Tamaoki T.

Mol Genet Metab. 2013 May;109(1):9-13. doi: 10.1016/j.ymgme.2013.01.020. Epub 2013 Feb 9.

PMID:
23453692
[PubMed - indexed for MEDLINE]
7.

A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine.

Yazaki M, Kinoshita M, Ogawa S, Fujimi S, Matsushima A, Hineno A, Tazawa K, Fukushima K, Kimura R, Yanagida M, Matsunaga H, Saheki T, Ikeda S.

Clin Neurol Neurosurg. 2013 Aug;115(8):1542-5. doi: 10.1016/j.clineuro.2012.12.027. Epub 2013 Jan 28. No abstract available.

PMID:
23369404
[PubMed - indexed for MEDLINE]
8.

High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations.

Lee BH, Kim YM, Heo SH, Kim GH, Choi IH, Lee BS, Kim EA, Kim KS, Jhang WK, Park SJ, Yoo HW.

Mol Genet Metab. 2013 Jan;108(1):18-24. doi: 10.1016/j.ymgme.2012.11.011. Epub 2012 Nov 28.

PMID:
23246278
[PubMed - indexed for MEDLINE]
9.

Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I.

Woo HI, Ki CS, Lee SY, Kim JW, Song J, Jin DK, Park WS, Lee DH, Lee YW, Park HD.

Clin Biochem. 2013 Feb;46(3):209-13. doi: 10.1016/j.clinbiochem.2012.10.008. Epub 2012 Oct 22.

PMID:
23099195
[PubMed - indexed for MEDLINE]
10.

Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants.

Treepongkaruna S, Jitraruch S, Kodcharin P, Charoenpipop D, Suwannarat P, Pienvichit P, Kobayashi K, Wattanasirichaigoon D.

BMC Gastroenterol. 2012 Oct 15;12:141. doi: 10.1186/1471-230X-12-141.

PMID:
23067347
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency.

Saheki T, Inoue K, Ono H, Katsura N, Yokogawa M, Yoshidumi Y, Furuie S, Kuroda E, Ushikai M, Asakawa A, Inui A, Eto K, Kadowaki T, Sinasac DS, Yamamura K, Kobayashi K.

Mol Genet Metab. 2012 Nov;107(3):322-9. doi: 10.1016/j.ymgme.2012.07.021. Epub 2012 Aug 2.

PMID:
22921887
[PubMed - indexed for MEDLINE]
12.

An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene.

Takahashi Y, Koyama S, Tanaka H, Arawaka S, Wada M, Kawanami T, Haga H, Watanabe H, Toyota K, Numakura C, Hayasaka K, Kato T.

Intern Med. 2012;51(16):2131-4. Epub 2012 Aug 15.

PMID:
22892490
[PubMed - indexed for MEDLINE]
Free Article
13.

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]
14.

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]
15.

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]
16.

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.

Kikuchi A, Arai-Ichinoi N, Sakamoto O, Matsubara Y, Saheki T, Kobayashi K, Ohura T, Kure S.

Mol Genet Metab. 2012 Apr;105(4):553-8. doi: 10.1016/j.ymgme.2011.12.024. Epub 2012 Jan 8.

PMID:
22277121
[PubMed - indexed for MEDLINE]
17.

A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study.

Fiermonte G, Parisi G, Martinelli D, De Leonardis F, Torre G, Pierri CL, Saccari A, Lasorsa FM, Vozza A, Palmieri F, Dionisi-Vici C.

Mol Genet Metab. 2011 Dec;104(4):501-6. doi: 10.1016/j.ymgme.2011.08.022. Epub 2011 Aug 25.

PMID:
21914561
[PubMed - indexed for MEDLINE]
18.

The characteristics of food intake in patients with type II citrullinemia.

Nakamura M, Yazaki M, Kobayashi Y, Fukushima K, Ikeda S, Kobayashi K, Saheki T, Nakaya Y.

J Nutr Sci Vitaminol (Tokyo). 2011;57(3):239-45.

PMID:
21908947
[PubMed - indexed for MEDLINE]
Free Article
19.

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]
20.

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

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