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
    DIVRY, P
    VIANEYLIAUD, C
    GAY, C
    MACABEO, V
    RAPIN, F
    ECHENNE, B
    [J]. 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
    HAGENFELDT, L
    BOLLGREN, I
    VENIZELOS, N
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 (02) : 135 - 141
  • [4] N-ACETYLASPARTIC ACIDURIA IN A CHILD WITH A PROGRESSIVE CEREBRAL ATROPHY
    KVITTINGEN, EA
    GULDAL, G
    BORSTING, S
    SKALPE, IO
    STOKKE, O
    JELLUM, E
    [J]. CLINICA CHIMICA ACTA, 1986, 158 (03) : 217 - 227
  • [5] ASPARTOACYLASE DEFICIENCY AND N-ACETYLASPARTIC ACIDURIA IN PATIENTS WITH CANAVAN DISEASE
    MATALON, R
    MICHALS, K
    SEBESTA, D
    DEANCHING, M
    GASHKOFF, P
    CASANOVA, J
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 29 (02): : 463 - 471
  • [6] HURLERS SYNDROME - BIOSYNTHESIS OF ACID MUCOPOLYSACCHARIDES IN TISSUE CULTURE
    MATALON, R
    DORFMAN, A
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1966, 56 (04) : 1310 - &
  • [7] VANBOGAERT L, 1967, SPONGY DEGENERATION, P3