Cystinosis: cystine accumulation due to deficiency in translisosomal transport

被引:0
作者
Morell, GP [1 ]
机构
[1] Univ Autonoma Barcelona, Hosp Germans Trias & Pujol, Serv Pediat, Barcelona 08917, Spain
来源
MEDICINA CLINICA | 2004年 / 123卷 / 03期
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:95 / 96
页数:2
相关论文
共 17 条
[1]  
BERGERON M, 2001, METABOLIC MOL BASES, P5023
[2]   Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis [J].
Cherqui, S ;
Sevin, C ;
Hamard, G ;
Kalatzis, V ;
Sich, M ;
Pequignot, MO ;
Gogat, K ;
Abitbol, M ;
Broyer, M ;
Gubler, MC ;
Antignac, C .
MOLECULAR AND CELLULAR BIOLOGY, 2002, 22 (21) :7622-7632
[3]  
de Graaf-Hess A, 1999, CLIN CHEM, V45, P2224
[4]   Evolution of ocular manifestations in nephropathic cystinosis: A long-term study of a population treated with cysteamine [J].
Dureau, P ;
Broyer, M ;
Dufier, JL .
JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, 2003, 40 (03) :142-146
[5]  
Foreman JW., 2004, PEDIAT NEPHROLOGY, P789
[6]   Early oral cysteamine therapy for nephropathic cystinosis [J].
Gahl, WA .
EUROPEAN JOURNAL OF PEDIATRICS, 2003, 162 (Suppl 1) :S38-S41
[7]   Cystinosis [J].
Gahl, WA ;
Thoene, JG ;
Schneider, JA .
NEW ENGLAND JOURNAL OF MEDICINE, 2002, 347 (02) :111-121
[8]   CYSTINE TRANSPORT IS DEFECTIVE IN ISOLATED LEUKOCYTE LYSOSOMES FROM PATIENTS WITH CYSTINOSIS [J].
GAHL, WA ;
BASHAN, N ;
TIETZE, F ;
BERNARDINI, I ;
SCHULMAN, JD .
SCIENCE, 1982, 217 (4566) :1263-1265
[9]  
Llamas MSM, 2004, MED CLIN-BARCELONA, V123, P97
[10]   IMPROVED RENAL-FUNCTION IN CHILDREN WITH CYSTINOSIS TREATED WITH CYSTEAMINE [J].
MARKELLO, TC ;
BERNARDINI, IM ;
GAHL, WA .
NEW ENGLAND JOURNAL OF MEDICINE, 1993, 328 (16) :1157-1162