HEXOSAMINIDASE-A DEFICIENCY PRESENTING AS ATYPICAL JUVENILE-ONSET SPINAL MUSCULAR-ATROPHY

被引：31

作者：

PARNES, S

KARPATI, G

CARPENTER, S

KIN, NMKNY

WOLFE, LS

SURANYI, L

机构：

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

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

来源：

ARCHIVES OF NEUROLOGY | 1985年 / 42卷 / 12期

关键词：

D O I：

10.1001/archneur.1985.04060110058016

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：1176 / 1180

页数：5

共 22 条

[1] SYNTHESIS OF 4-METHYLUMBELLIFERYL-BETA-D-N-ACETYLGLUCOSAMINE-6-SULFATE AND ITS USE IN CLASSIFICATION OF GM2 GANGLIOSIDOSIS GENOTYPES [J].

BAYLERAN, J ;

HECHTMAN, P ;

SARAY, W .

CLINICA CHIMICA ACTA, 1984, 143 (02) :73-89

[2] LATE ONSET GM2-GANGLIOSIDOSIS - CLINICAL, PATHOLOGICAL, AND BIOCHEMICAL STUDIES ON 8 PATIENTS [J].

BRETT, EM ;

ELLIS, RB ;

HAAS, L ;

IKONNE, JU ;

LAKE, BD ;

PATRICK, AD ;

STEPHENS, R .

ARCHIVES OF DISEASE IN CHILDHOOD, 1973, 48 (10) :775-785

[3]

DALE AJD, 1983, ANN NEUROL, V14, P109

[4] DEFICIENCY OF THE HEXOSAMINIDASE-A ACTIVATOR PROTEIN IN A CASE OF GM2 GANGLIOSIDOSIS - VARIANT-AB [J].

HECHTMAN, P ;

GORDON, BA ;

KIN, NMKNY .

PEDIATRIC RESEARCH, 1982, 16 (03) :217-222

[5]

JELLINGER K, 1982, CLIN NEUROPATHOL, V1, P31

[6] THE CLINICAL SPECTRUM OF HEXOSAMINIDASE DEFICIENCY DISEASES [J].

JOHNSON, WG .

NEUROLOGY, 1981, 31 (11) :1453-1456

[7] JUVENILE SPINAL MUSCULAR-ATROPHY - A NEW HEXOSAMINIDASE DEFICIENCY PHENOTYPE [J].

JOHNSON, WG ;

WIGGER, HJ ;

KARP, HR ;

GLAUBIGER, LM ;

ROWLAND, LP .

ANNALS OF NEUROLOGY, 1982, 11 (01) :11-16

[8]

KABACK MM, 1971, PROGR CLIN BIOL RES, V13, P267

[9]

KABACK MM, 1979, CLIN RES, V27, P121

[10] GM2-GANGLIOSIDOSIS - HEXOSAMINIDASE MUTATIONS NOT OF THE TAY-SACHS TYPE PRODUCE UNUSUAL CLINICAL VARIANTS [J].

KOLODNY, EH ;

RAGHAVAN, SS .

TRENDS IN NEUROSCIENCES, 1983, 6 (01) :16-20

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