ASPARTOACYLASE DEFICIENCY AND N-ACETYLASPARTIC ACIDURIA IN PATIENTS WITH CANAVAN DISEASE

被引:321
作者
MATALON, R [1 ]
MICHALS, K [1 ]
SEBESTA, D [1 ]
DEANCHING, M [1 ]
GASHKOFF, P [1 ]
CASANOVA, J [1 ]
机构
[1] UNIV ILLINOIS,DEPT NUTR & MED DIETET,CHICAGO,IL 60612
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1988年 / 29卷 / 02期
关键词
D O I
10.1002/ajmg.1320290234
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
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页码:463 / 471
页数:9
相关论文
共 18 条
[1]   ELECTRON MICROSCOPIC AND ENZYME HISTOCHEMICAL STUDIES OF CEREBELLUM IN SPONGY DEGENERATION - (VAN BOGAERT AND BERTRAND TYPE) [J].
ADACHI, M ;
SCHNECK, L ;
VOLK, BW ;
TORII, J .
ACTA NEUROPATHOLOGICA, 1972, 20 (01) :22-&
[2]   CEREBRAL SPONGY DEGENERATION OF INFANCY - BIOCHEMICAL AND ULTRASTRUCTURAL STUDY OF AFFECTED TWINS [J].
ADORNATO, BT ;
ROE, TF ;
LAMPERT, PW ;
OBRIEN, JS ;
NEUSTEIN, HB .
NEUROLOGY, 1972, 22 (02) :202-&
[3]   ACETYL TRANSPORT MECHANISMS - METABOLISM OF N-ACETYL-L-ASPARTIC ACID IN NON-NERVOUS TISSUES OF RAT [J].
BENUCK, M ;
DADAMO, AF .
BIOCHIMICA ET BIOPHYSICA ACTA, 1968, 152 (03) :611-&
[4]   METABOLISM OF GLUCOSE AND GLUTAMATE BY SYNAPTOSOMES FROM MAMMALIAN CEREBRAL CORTEX [J].
BRADFORD, HF ;
THOMAS, AJ .
JOURNAL OF NEUROCHEMISTRY, 1969, 16 (11) :1495-&
[5]   SPONGY DEGENERATION OF NERVOUS SYSTEM - A REPORT OF 4 CASES WITH A REVIEW OF LITERATURE [J].
BUCHANAN, DS ;
DAVIS, RL .
NEUROLOGY, 1965, 15 (03) :207-&
[6]  
GOODMAN SI, 1981, DIAGNOSIS ORGANIC AC, P3
[7]  
HAGENFELDT L, 1967, J INHER METAB DIS, V10, P135
[8]   STUDIES ON THE ROLE OF N-ACETYLASPARTIC ACID IN MAMMALIAN BRAIN [J].
JACOBSON, KB .
JOURNAL OF GENERAL PHYSIOLOGY, 1959, 43 (02) :323-333
[9]   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
[10]  
LOWRY OH, 1951, J BIOL CHEM, V193, P265