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    Results: 1 to 20 of 28

    1.

    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
    2.

    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]
    3.

    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
    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.

    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]
    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
    [PubMed - indexed for MEDLINE]
    7.

    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]
    8.

    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]
    9.

    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
    10.

    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]
    11.

    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
    12.

    Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.

    Perez CJ, Jaubert J, Guénet JL, Barnhart KF, Ross-Inta CM, Quintanilla VC, Aubin I, Brandon JL, Otto NW, DiGiovanni J, Gimenez-Conti I, Giulivi C, Kusewitt DF, Conti CJ, Benavides F.

    Am J Pathol. 2010 Oct;177(4):1958-68. doi: 10.2353/ajpath.2010.100118. Epub 2010 Aug 19.

    PMID:
    20724589
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis.

    Marquis-Nicholson R, Glamuzina E, Prosser D, Wilson C, Love DR.

    Genet Mol Res. 2010 Aug 3;9(3):1483-9. doi: 10.4238/vol9-3gmr834.

    PMID:
    20690080
    [PubMed - indexed for MEDLINE]
    Free Article
    14.

    Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.

    Ngu HL, Zabedah MY, Kobayashi K.

    Malays J Pathol. 2010 Jun;32(1):53-7.

    PMID:
    20614727
    [PubMed - indexed for MEDLINE]
    Free Article
    15.

    Nonalcoholic fatty liver disease in 2 siblings with adult-onset type II citrullinemia.

    Lee BH, Jin HY, Kim GH, Choi JH, Yoo HW.

    J Pediatr Gastroenterol Nutr. 2010 Jun;50(6):682-5. doi: 10.1097/MPG.0b013e3181d67fbf. No abstract available.

    PMID:
    20400906
    [PubMed - indexed for MEDLINE]
    16.

    Parenteral nutrition independence in a patient left with 25 cm of ileum and jejunum: a case report.

    Genton L, Nardo P, Huber O, Pichard C.

    Obes Surg. 2010 May;20(5):666-71. doi: 10.1007/s11695-010-0098-y. Epub 2010 Feb 26.

    PMID:
    20186575
    [PubMed - indexed for MEDLINE]
    17.

    Conventional diet therapy for hyperammonemia is risky in the treatment of hepatic encephalopathy associated with citrin deficiency.

    Fukushima K, Yazaki M, Nakamura M, Tanaka N, Kobayashi K, Saheki T, Takei H, Ikeda S.

    Intern Med. 2010;49(3):243-7. Epub 2010 Feb 1.

    PMID:
    20118603
    [PubMed - indexed for MEDLINE]
    Free Article
    18.

    First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period.

    Häberle J, Vilaseca MA, Meli C, Rigoldi M, Jara F, Vecchio I, Capra C, Parini R.

    Eur J Obstet Gynecol Reprod Biol. 2010 Apr;149(2):228-9. doi: 10.1016/j.ejogrb.2009.11.014. Epub 2009 Dec 14. No abstract available.

    PMID:
    20005624
    [PubMed - indexed for MEDLINE]
    19.

    Possible mechanism for zonisamide-induced hyperammonemia in a child with citrullinemia type 1.

    Shaikh AY, Muranjan MN, Gogtay NJ, Lahiri KR.

    Indian J Med Sci. 2009 May;63(5):203-6. doi: 10.4103/0019-5359.53168. No abstract available.

    PMID:
    19584493
    [PubMed - indexed for MEDLINE]
    Free Article
    20.

    Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster.

    Laróvere LE, Angaroni CJ, Antonozzi SL, Bezard MB, Shimohama M, de Kremer RD.

    Clin Biochem. 2009 Jul;42(10-11):1166-8. doi: 10.1016/j.clinbiochem.2009.03.024. Epub 2009 Apr 7.

    PMID:
    19358837
    [PubMed - indexed for MEDLINE]

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