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Volumn 71, Issue 1, 2009, Pages 80-83

Familial juvenile hyperuricemic nephropathy: Report on a new mutation and a pregnancy

Author keywords

Mutation; Pregnancy; Uric acid; Uromodulin

Indexed keywords

ALLOPURINOL; AMLODIPINE; ASPARTIC ACID; CALCITRIOL; CALCIUM ACETATE; CREATININE; ERYTHROPOIETIN; FOSINOPRIL; IRON; TAMM HORSFALL GLYCOPROTEIN; TYROSINE; URIC ACID; MUCOPROTEIN; TAMM-HORSFALL PROTEIN;

EID: 63249121478     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/CNP71080     Document Type: Article
Times cited : (19)

References (16)
  • 2
    • 4344575076 scopus 로고    scopus 로고
    • Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein
    • Bleyer AJ, Hart TC, Shihabi Z, Robins V, Hoyer JR. Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein. Kidney Int. 2004; 66: 974-977.
    • (2004) Kidney Int , vol.66 , pp. 974-977
    • Bleyer, A.J.1    Hart, T.C.2    Shihabi, Z.3    Robins, V.4    Hoyer, J.R.5
  • 3
    • 26444591591 scopus 로고    scopus 로고
    • A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
    • Calado J, Gaspar A, Clemente C, Rueff J. A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy. BMC Med Genet. 2005; 6: 5.
    • (2005) BMC Med Genet , vol.6 , pp. 5
    • Calado, J.1    Gaspar, A.2    Clemente, C.3    Rueff, J.4
  • 11
    • 0141620216 scopus 로고    scopus 로고
    • Tamm-Horsfall glycoprotein: Biology and clinical relevance
    • Serafini-Cessi F, Malagolini N, Cavallone D. Tamm-Horsfall glycoprotein: biology and clinical relevance. Am J Kidney Dis. 2003; 42: 658-676.
    • (2003) Am J Kidney Dis , vol.42 , pp. 658-676
    • Serafini-Cessi, F.1    Malagolini, N.2    Cavallone, D.3
  • 16
    • 10044220812 scopus 로고    scopus 로고
    • Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy
    • Yang H, Wu C, Zhao S, Guo J. Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy. FEBS Lett. 2004; 578: 236-238.
    • (2004) FEBS Lett , vol.578 , pp. 236-238
    • Yang, H.1    Wu, C.2    Zhao, S.3    Guo, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.