메뉴 건너뛰기




Volumn 49, Issue 2, 2012, Pages 118-119

Phenotype heterogeneity of hyperbilirubinemia condition: The lesson by coinheritance of glucose-6-phosphate dehydrogenase deficiency and Crigler-Najjar Syndrome type II in an Italian patient

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GLUCURONOSYLTRANSFERASE 1A1;

EID: 84863816067     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2012.05.004     Document Type: Letter
Times cited : (5)

References (9)
  • 1
    • 84857641966 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations
    • Minucci A., Moradkhani K., Hwang M.J., Zuppi C., Giardina B., Capoluongo E. Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations. Blood Cells Mol. Dis. 2012, 48:154-165.
    • (2012) Blood Cells Mol. Dis. , vol.48 , pp. 154-165
    • Minucci, A.1    Moradkhani, K.2    Hwang, M.J.3    Zuppi, C.4    Giardina, B.5    Capoluongo, E.6
  • 2
    • 62149101140 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase laboratory assay: how, when, and why?
    • Minucci A., Giardina B., Zuppi C., Capoluongo E. Glucose-6-phosphate dehydrogenase laboratory assay: how, when, and why?. IUBMB Life 2009, 61:27-34.
    • (2009) IUBMB Life , vol.61 , pp. 27-34
    • Minucci, A.1    Giardina, B.2    Zuppi, C.3    Capoluongo, E.4
  • 3
    • 0033832351 scopus 로고    scopus 로고
    • Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene
    • Iolascon A., Meloni A., Coppola B., Rosatelli M.C. Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. J. Med. Genet. 2000, 37:712-713.
    • (2000) J. Med. Genet. , vol.37 , pp. 712-713
    • Iolascon, A.1    Meloni, A.2    Coppola, B.3    Rosatelli, M.C.4
  • 5
    • 64649096636 scopus 로고    scopus 로고
    • The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis
    • Nkhoma E.T., Poole C., Vannappagari V., Hall S.A., Beutler E. The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis. Blood Cells Mol. Dis. 2009, 267-278.
    • (2009) Blood Cells Mol. Dis. , pp. 267-278
    • Nkhoma, E.T.1    Poole, C.2    Vannappagari, V.3    Hall, S.A.4    Beutler, E.5
  • 7
    • 12244254497 scopus 로고    scopus 로고
    • Coinheritance of variant UDP-glucuronosyl transferase 1A1 gene and glucose-6-phosphate dehydrogenase deficiency in adults with hyperbilirubinemia
    • Huang M.J., Yang Y.C., Yang S.S., Lin M.S., Chen E.S., Huang C.S. Coinheritance of variant UDP-glucuronosyl transferase 1A1 gene and glucose-6-phosphate dehydrogenase deficiency in adults with hyperbilirubinemia. Pharmacogenetics 2002, 104:663-666.
    • (2002) Pharmacogenetics , vol.104 , pp. 663-666
    • Huang, M.J.1    Yang, Y.C.2    Yang, S.S.3    Lin, M.S.4    Chen, E.S.5    Huang, C.S.6
  • 9
    • 84861574136 scopus 로고    scopus 로고
    • Gilbert syndrome redefined: a complex genetic haplotype influences the regulation of glucuronidation
    • (Epub ahead of print)
    • Ehmer U., Kalthoff S., Fakundiny B., Pabst B., Freiberg N., Naumann R., Manns M.P., Strassburg C.P. Gilbert syndrome redefined: a complex genetic haplotype influences the regulation of glucuronidation. Hepatology 2011, 85:27. (Epub ahead of print). 10.1002/hep.25561.
    • (2011) Hepatology , vol.85 , pp. 27
    • Ehmer, U.1    Kalthoff, S.2    Fakundiny, B.3    Pabst, B.4    Freiberg, N.5    Naumann, R.6    Manns, M.P.7    Strassburg, C.P.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.