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Volumn 347, Issue 2, 2002, Pages 111-121

Medical progress: Cystinosis

Author keywords

[No Author keywords available]

Indexed keywords

CYSTINE; CARRIER PROTEIN; CTNS PROTEIN, HUMAN; GLYCOPROTEIN; MEMBRANE PROTEIN; MERCAPTAMINE;

EID: 0037062909     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMra020552     Document Type: Review
Times cited : (596)

References (76)
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  • 4
    • 84872102011 scopus 로고
    • The amino-aciduria in Fanconi syndrome: A study making extensive use of techniques based on paper partition chromatography
    • (1947) Biochem J , vol.41 , pp. 240-253
    • Dent, C.E.1
  • 46
    • 17344382077 scopus 로고    scopus 로고
    • The genomic region encompassing the nephropathic cystinosis gene (CTNS): Complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion
    • (2000) Genome Res , vol.10 , pp. 165-173
    • Touchman, J.W.1    Anikster, Y.2    Dietrich, N.L.3
  • 50
    • 0034835289 scopus 로고    scopus 로고
    • The promoter of a lysosomal membrane transporter gene, CTNS, binds SP-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region
    • (2001) Am J Hum Genet , vol.69 , pp. 712-721
    • Phornphutkul, C.1    Anikster, Y.2    Huizing, M.3
  • 59
    • 0344110499 scopus 로고    scopus 로고
    • Treatment with recombinant human growth hormone in short children with nephropathic cystinosis: No evidence for increased deterioration rate of renal function
    • (1998) Pediatr Res , vol.43 , pp. 484-488
    • Wuhl, E.1    Haffner, D.2    Gretz, N.3
  • 64
    • 0021860843 scopus 로고
    • Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts: Role in therapeutic cystine removal
    • (1985) J Biol Chem , vol.260 , pp. 4791-4798
    • Pisoni, R.L.1    Thoene, J.G.2    Christensen, H.N.3
  • 69
    • 84866568130 scopus 로고    scopus 로고
    • Oakland, Calif.: Cystinosis Foundation
  • 70
    • 84866570630 scopus 로고    scopus 로고
    • Burlington, Mass.: Cystinosis Research Network


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.