LYSOSOMAL STORAGE DISEASES

被引:110
作者
GIESELMANN, V [1 ]
机构
[1] UNIV GOTTINGEN,DEPT BIOCHEM 2,W-3400 GOTTINGEN,GERMANY
来源
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE | 1995年 / 1270卷 / 2-3期
关键词
LYSOSOMAL STORAGE DISEASE; LYSOSOMAL ENZYME;
D O I
10.1016/0925-4439(94)00075-2
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
[No abstract available]
引用
收藏
页码:103 / 136
页数:34
相关论文
共 403 条
[1]  
AINSWORTH PJ, 1991, AM J HUM GENET, V51, P802
[2]  
Akalin N., 1992, Human Mutation, V1, P40, DOI 10.1002/humu.1380010107
[3]  
AKLI S, 1990, J BIOL CHEM, V265, P7324
[4]   10 NOVEL MUTATIONS IN THE HEXA-GENE IN NON-JEWISH TAY-SACHS PATIENTS [J].
AKLI, S ;
CHOMEL, JC ;
LACORTE, JM ;
BACHNER, L ;
POENARU, A ;
POENARU, L .
HUMAN MOLECULAR GENETICS, 1993, 2 (01) :61-67
[5]  
AKLI S, 1993, HUM GENET, V90, P614
[6]   7 NOVEL TAY-SACHS MUTATIONS DETECTED BY CHEMICAL MISMATCH CLEAVAGE OF PCR-AMPLIFIED CDNA FRAGMENTS [J].
AKLI, S ;
CHELLY, J ;
LACORTE, JM ;
POENARU, L ;
KAHN, A .
GENOMICS, 1991, 11 (01) :124-134
[7]  
ANDERSON RA, 1991, J BIOL CHEM, V266, P22479
[8]   MUTATIONS AT THE LYSOSOMAL ACID CHOLESTERYL ESTER HYDROLASE GENE LOCUS IN WOLMAN-DISEASE [J].
ANDERSON, RA ;
BYRUM, RS ;
COATES, PM ;
SANDO, GN .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (07) :2718-2722
[9]  
ANDRIA G, 1981, SIALIDASES SIALIDOSE, P379
[10]  
ARLT G, 1994, J BIOL CHEM, V269, P9638