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Volumn 50, Issue 6, 2010, Pages 682-685

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

Author keywords

[No Author keywords available]

Indexed keywords

4 PHENYLBUTYRIC ACID; ARGININE; BENZOIC ACID; MEMBRANE PROTEIN; SLC25A13 PROTEIN; UNCLASSIFIED DRUG;

EID: 77953167325     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e3181d67fbf     Document Type: Article
Times cited : (18)

References (12)
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  • 2
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    • Ebbeling, C.B.1    Pawlak, D.B.2    Ludwig, D.S.3
  • 3
    • 2542548063 scopus 로고    scopus 로고
    • Obesity and the metabolic syndrome in children and adolescents
    • Weiss R, Dziura J, Burgert TS, et al. Obesity and the metabolic syndrome in children and adolescents. N Engl J Med 2004;350:2362-74.
    • (2004) N. Engl. J. Med. , vol.350 , pp. 2362-2374
    • Weiss, R.1    Dziura, J.2    Burgert, T.S.3
  • 4
    • 12244299896 scopus 로고    scopus 로고
    • Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency
    • Saheki T, Kobayashi K, Iijima M, et al. Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency. Metab Brain Dis 2002;17:335-46.
    • (2002) Metab. Brain Dis. , vol.17 , pp. 335-346
    • Saheki, T.1    Kobayashi, K.2    Iijima, M.3
  • 5
    • 12144289341 scopus 로고    scopus 로고
    • Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: Involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle
    • Saheki T, Kobayashi K, Iijima M, et al. Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. Mol Genet Metab 2004;81(Suppl 1): S20-6.
    • (2004) Mol. Genet. Metab. , vol.81 , Issue.1 SUPPL.
    • Saheki, T.1    Kobayashi, K.2    Iijima, M.3
  • 6
    • 0033037729 scopus 로고    scopus 로고
    • The gene mutated in adultonset type II citrullinaemia encodes a putative mitochondrial carrier protein
    • Kobayashi K, Sinasac DS, Iijima M, et al. The gene mutated in adultonset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet 1999;22:159-63.
    • (1999) Nat. Genet. , vol.22 , pp. 159-163
    • Kobayashi, K.1    Sinasac, D.S.2    Iijima, M.3
  • 7
    • 53249111691 scopus 로고    scopus 로고
    • Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease
    • Komatsu M, Yazaki M, Tanaka N, et al. Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease. J Hepatol 2008;49:810-20.
    • (2008) J. Hepatol. , vol.49 , pp. 810-820
    • Komatsu, M.1    Yazaki, M.2    Tanaka, N.3
  • 8
    • 42149106307 scopus 로고    scopus 로고
    • Six cases of citrin deficiency in Korea
    • Ko JM, Kim GH, Kim JH, et al. Six cases of citrin deficiency in Korea. Int J Mol Med 2007;20:809-15.
    • (2007) Int. J. Mol. Med. , vol.20 , pp. 809-815
    • Ko, J.M.1    Kim, G.H.2    Kim, J.H.3
  • 10
    • 63449091161 scopus 로고    scopus 로고
    • Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period
    • Nagasaka H, Okano Y, Tsukahara H, et al. Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period. Mol Genet Metab 2009;97:21-6.
    • (2009) Mol. Genet. Metab. , vol.97 , pp. 21-26
    • Nagasaka, H.1    Okano, Y.2    Tsukahara, H.3
  • 11
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    • Reduced carbohydrate intake in citrin-deficient subjects
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    • (2008) J. Inherit Metab. Dis. , vol.31 , pp. 386-394
    • Saheki, T.1    Kobayashi, K.2    Terashi, M.3
  • 12
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    • Treatment of a citrindeficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate
    • October 29, Epub ahead of print
    • Mutoh K, Kurokawa K, Kobayashi K, et al. Treatment of a citrindeficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate. J Inherit Metab Dis October 29, 2008 [Epub ahead of print].
    • (2008) J. Inherit Metab. Dis.
    • Mutoh, K.1    Kurokawa, K.2    Kobayashi, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.