PARTIAL ENZYME DEFICIENCIES - RESIDUAL ACTIVITIES AND THE DEVELOPMENT OF NEUROLOGICAL DISORDERS

被引:207
作者
CONZELMANN, E
SANDHOFF, K
机构
关键词
D O I
10.1159/000112332
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
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页码:58 / 71
页数:14
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共 72 条
[1]   MORQUIO-LIKE SYNDROME WITH BETA GALACTOSIDASE DEFICIENCY AND NORMAL HEXOSAMINE SULFATASE ACTIVITY - MUCOPOLYSACCHARIDOSIS IVB [J].
ARBISSER, AI ;
DONNELLY, KA ;
SCOTT, CI ;
DIFERRANTE, N ;
SINGH, J ;
STEVENSON, RE ;
AYLESWORTH, AS ;
HOWELL, RR .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1977, 1 (02) :195-205
[2]   A CONTROLLED STUDY OF ENZYMIC ACTIVITIES IN 3 HUMAN DISORDERS OF GLYCOLIPID METABOLISM [J].
AUSTIN, JH ;
BALASUBRAMANIAN, AS ;
BACHHAWAT, BK ;
BASU, DK ;
SARASWATHI, S ;
PATTABIRAMAN, TN .
JOURNAL OF NEUROCHEMISTRY, 1963, 10 (11) :805-&
[3]   DEFECT IN HURLER AND SCHEIE SYNDROMES - DEFICIENCY OF ALPHA-IDURONIDASE [J].
BACH, G ;
WEISSMAN.B ;
FRIEDMAN, R ;
NEUFELD, EF .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1972, 69 (08) :2048-&
[4]  
BARTHOLOME K, 1975, PEDIATR RES, V9, P899, DOI 10.1203/00006450-197509120-00006
[5]   GAUCHERS-DISEASE IN AN ASYMPTOMATIC 72-YEAR-OLD [J].
BEUTLER, E .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1977, 237 (23) :2529-2529
[6]   LATE ADULT-ONSET METACHROMATIC LEUKODYSTROPHY - DEMENTIA AND POLYNEUROPATHY IN A 63-YEAR-OLD MAN [J].
BOSCH, EP ;
HART, MN .
ARCHIVES OF NEUROLOGY, 1978, 35 (07) :475-477
[7]  
Brady R. O., 1983, METABOLIC BASIS INHE, P831
[8]   METABOLISM OF GLUCOCEREBROSIDES .2. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHERS DISEASE [J].
BRADY, RO ;
KANFER, JN ;
SHAPIRO, D .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1965, 18 (02) :221-&
[9]   METABOLISM OF SPHINGOMYELIN .2. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN NIEMANN-PICK DISEASE [J].
BRADY, RO ;
KANFER, JN ;
MOCK, MB ;
FREDRICKSON, DS .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1966, 55 (02) :366-+
[10]  
CHIAO YB, 1980, CLIN CHIM ACTA, V105, P41