FREE N-ACETYLNEURAMINIC ACID (NANA) STORAGE DISORDERS - EVIDENCE FOR DEFECTIVE NANA TRANSPORT ACROSS THE LYSOSOMAL MEMBRANE

被引:27
作者
MANCINI, GMS [1 ]
VERHEIJEN, FW [1 ]
GALJAARD, H [1 ]
机构
[1] ERASMUS UNIV,DEPT CELL BIOL & GENET,POB 1738,3000 DR ROTTERDAM,NETHERLANDS
关键词
D O I
10.1007/BF00401229
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:214 / 217
页数:4
相关论文
共 17 条
[1]   SALLA DISEASE - NEW LYSOSOMAL STORAGE DISORDER [J].
AULA, P ;
AUTIO, S ;
RAIVIO, KO ;
RAPOLA, J ;
THODEN, CJ ;
KOSKELA, SL ;
YAMASHINA, I .
ARCHIVES OF NEUROLOGY, 1979, 36 (02) :88-94
[2]  
BAUMKOTTER J, 1985, HUM GENET, V71, P155
[3]   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
[4]  
GALJAARD H, 1980, GENETIC METABOLIC DI
[5]  
HALES CN, 1984, LYSOSOMES BIOL PATHO, P165
[6]  
HANCOCK LW, 1983, BIOCH BIOPHYS ACTA, V760, P32
[7]   GENERALIZED SIALIC-ACID STORAGE DISEASE [J].
HORWITZ, AL ;
HANCOCK, L ;
DAWSON, G ;
THALER, MM .
PEDIATRIC RESEARCH, 1981, 15 (04) :563-563
[8]  
REEVES JP, 1979, J BIOL CHEM, V254, P8914
[9]   SALLA DISEASE - A NEW LYSOSOMAL STORAGE DISORDER WITH DISTURBED SIALIC-ACID METABOLISM [J].
RENLUND, M ;
AULA, P ;
RAIVIO, KO ;
AUTIO, S ;
SAINIO, K ;
RAPOLA, J ;
KOSKELA, SL .
NEUROLOGY, 1983, 33 (01) :57-66
[10]  
RENLUND M, 1983, EUR J BIOCHEM, V130, P39