ADULT ONSET MOTOR NEURONOPATHY IN THE JUVENILE TYPE OF HEXOSAMINIDASE-A AND HEXOSAMINIDASE-B DEFICIENCY

被引：33

作者：

RUBIN, M

KARPATI, G

WOLFE, LS

CARPENTER, S

KLAVINS, MH

MAHURAN, DJ

机构：

[1] MONTREAL NEUROL INST, 3801 UNIV ST, MONTREAL H3A 2B4, QUEBEC, CANADA

[2] MCGILL UNIV, DEPT NEUROL & NEUROSURG, MONTREAL H3A 2T5, QUEBEC, CANADA

[3] HOSP SICK CHILDREN, RES INST, LONDON WC1N 3JH, ENGLAND

[4] UNIV TORONTO, DEPT CLIN BIOCHEM, TORONTO M5S 1A1, ONTARIO, CANADA

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 1988年 / 87卷 / 01期

关键词：

D O I：

10.1016/0022-510X(88)90058-5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：103 / 119

页数：17

共 45 条

[21]

LOWDEN JA, 1973, CLIN CHEM, V19, P1345

[22] PROGRESSIVE CEREBELLAR-ATAXIA, SPASTICITY, PSYCHOMOTOR RETARDATION, AND HEXOSAMINIDASE DEFICIENCY IN A 10-YEAR-OLD CHILD - JUVENILE SANDHOFF DISEASE [J].

MACLEOD, PM ;

WOOD, S ;

JAN, JE ;

APPLEGARTH, DA ;

DOLMAN, CL .

NEUROLOGY, 1977, 27 (06) :571-573

[23] EVIDENCE FOR 2 DISSIMILAR POLYPEPTIDE-CHAINS IN THE BETA-2 SUBUNIT OF HEXOSAMINIDASE [J].

MAHURAN, DJ ;

TSUI, F ;

GRAVEL, RA ;

LOWDEN, JA .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (05) :1602-1605

[24]

MANIATIS T, 1982, MOL CLONING LABORATO, P203

[25] JUVENILE PROGRESSIVE DYSTONIA - A NEW PHENOTYPE OF GM2 GANGLIOSIDOSIS [J].

MEEK, D ;

WOLFE, LS ;

ANDERMANN, E ;

ANDERMANN, F .

ANNALS OF NEUROLOGY, 1984, 15 (04) :348-352

[26] JUVENILE GM2 GANGLIOSIDOSIS - BIOCHEMICAL AND ULTRASTRUCTURAL STUDIES ON A NEW VARIANT OF TAY-SACHS DISEASE [J].

MENKES, JH ;

OKADA, S ;

GRIPPO, J ;

ANDREWS, JM ;

CANCILLA, PA .

ARCHIVES OF NEUROLOGY, 1971, 25 (01) :14-&

[27] HEXOSAMINIDASE-A DEFICIENCY IN ADULTS [J].

NAVON, R ;

ARGOV, Z ;

FRISCH, A .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 24 (01) :179-196

[28] HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHIC ANALYSIS OF OLIGOSACCHARIDES AND GLYCOPEPTIDES ACCUMULATING IN LYSOSOMAL STORAGE DISORDERS [J].

NGYINGKIN, NMK ;

WOLFE, LS .

ANALYTICAL BIOCHEMISTRY, 1980, 102 (01) :213-219

[29]

NORTON WT, 1971, J LIPID RES, V12, P84

[30]

OBRIEN JS, 1983, METABOLIC BASIS INHE, P945

← 1 2 3 4 5 →