ASPARTOACYLASE DEFICIENCY - THE ENZYME DEFECT IN CANAVAN DISEASE

被引:69
作者
MATALON, R [1 ]
KAUL, R [1 ]
CASANOVA, J [1 ]
MICHALS, K [1 ]
JOHNSON, A [1 ]
RAPIN, I [1 ]
GASHKOFF, P [1 ]
DEANCHING, M [1 ]
机构
[1] YESHIVA UNIV ALBERT EINSTEIN COLL MED,BRONX,NY 10461
关键词
D O I
10.1007/BF03335413
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:329 / 331
页数:3
相关论文
共 7 条
[1]   N-ACETYLASPARTIC ACIDURIA - REPORT OF 3 NEW CASES IN CHILDREN WITH A NEUROLOGICAL SYNDROME ASSOCIATING MACROCEPHALY AND LEUKODYSTROPHY [J].
DIVRY, P ;
VIANEYLIAUD, C ;
GAY, C ;
MACABEO, V ;
RAPIN, F ;
ECHENNE, B .
JOURNAL OF INHERITED METABOLIC DISEASE, 1988, 11 (03) :307-308
[2]  
GOODMAN SI, 1981, DIAGNOSIS ORGANIC AC, P3
[3]   N-ACETYLASPARTIC ACIDURIA DUE TO ASPARTOACYLASE DEFICIENCY - A NEW ETIOLOGY OF CHILDHOOD LEUKODYSTROPHY [J].
HAGENFELDT, L ;
BOLLGREN, I ;
VENIZELOS, N .
JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 (02) :135-141
[4]   N-ACETYLASPARTIC ACIDURIA IN A CHILD WITH A PROGRESSIVE CEREBRAL ATROPHY [J].
KVITTINGEN, EA ;
GULDAL, G ;
BORSTING, S ;
SKALPE, IO ;
STOKKE, O ;
JELLUM, E .
CLINICA CHIMICA ACTA, 1986, 158 (03) :217-227
[5]   ASPARTOACYLASE DEFICIENCY AND N-ACETYLASPARTIC ACIDURIA IN PATIENTS WITH CANAVAN DISEASE [J].
MATALON, R ;
MICHALS, K ;
SEBESTA, D ;
DEANCHING, M ;
GASHKOFF, P ;
CASANOVA, J .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 29 (02) :463-471
[6]   HURLERS SYNDROME - BIOSYNTHESIS OF ACID MUCOPOLYSACCHARIDES IN TISSUE CULTURE [J].
MATALON, R ;
DORFMAN, A .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1966, 56 (04) :1310-&
[7]  
VANBOGAERT L, 1967, SPONGY DEGENERATION, P3