Cystinosis

被引:505
作者
Gahl, WA
Thoene, JG
Schneider, JA
机构
[1] NICHHD, Heritable Disorders Branch, Bethesda, MD 20892 USA
[2] Tulane Hlth Sci Ctr, Hayward Genet Ctr, New Orleans, LA USA
[3] Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USA
关键词
D O I
10.1056/NEJMra020552
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:111 / 121
页数:11
相关论文
共 76 条
[1]  
ABDERHALDEN E, 1903, Z PHYSL CHEM, V38, P557
[2]   Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS) [J].
Anikster, Y ;
Lucero, C ;
Touchman, JW ;
Huizing, M ;
McDowell, G ;
Shotelersuk, V ;
Green, ED ;
Gahl, WA .
MOLECULAR GENETICS AND METABOLISM, 1999, 66 (02) :111-116
[3]   Pulmonary dysfunction in adults with nephropathic cystinosis [J].
Anikster, Y ;
Lacbawan, F ;
Brantly, M ;
Gochuico, BL ;
Avila, NA ;
Travis, W ;
Gahl, WA .
CHEST, 2001, 119 (02) :394-401
[4]   Ocular nonnephropathic cystinosis: Clinical, biochemical, and molecular correlations [J].
Anikster, Y ;
Lucero, C ;
Guo, JR ;
Huizing, M ;
Shotelersuk, V ;
Bernardini, I ;
McDowell, G ;
Iwata, F ;
Kaiser-Kupfer, MI ;
Jaffe, R ;
Thoene, J ;
Schneider, JA ;
Gahl, WA .
PEDIATRIC RESEARCH, 2000, 47 (01) :17-23
[5]  
Anikster Y, 1999, HUM MUTAT, V14, P454, DOI 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO
[6]  
2-H
[7]   Severity of phenotype in cystinosis varies with mutations in the CTNS gene:: predicted effect on the model of cystinosin [J].
Attard, M ;
Jean, G ;
Forestier, L ;
Cherqui, S ;
van't Hoff, W ;
Broyer, M ;
Antignac, C ;
Town, M .
HUMAN MOLECULAR GENETICS, 1999, 8 (13) :2507-2514
[8]  
Aula P., 2001, METAB MOL BASES INHE, P5109
[9]  
Ballantyne AO, 2000, NEUROPSY NEUROPSY BE, V13, P254
[10]  
Beckman DA, 1998, TERATOLOGY, V58, P96, DOI 10.1002/(SICI)1096-9926(199809/10)58:3/4<96::AID-TERA5>3.0.CO