HEXOSAMINIDASE-A DEFICIENCY MANIFESTING AS SPINAL MUSCULAR-ATROPHY OF LATE ONSET

被引：26

作者：

KARNI, A

NAVON, R

SADEH, M

机构：

[1] CHAIM SHEBA MED CTR,DEPT NEUROL,IL-52621 TEL HASHOMER,ISRAEL

[2] MEIR HOSP,DEPT GENET,KFAR SABA,ISRAEL

[3] TEL AVIV UNIV,SACKLER SCH MED,TEL AVIV,ISRAEL

来源：

ANNALS OF NEUROLOGY | 1988年 / 24卷 / 03期

关键词：

D O I：

10.1002/ana.410240316

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：451 / 453

页数：3

共 18 条

[1] CLINICAL AND GENETIC VARIATIONS IN THE SYNDROME OF ADULT GM2 GANGLIOSIDOSIS RESULTING FROM HEXOSAMINIDASE-A DEFICIENCY [J].

ARGOV, Z ;

NAVON, R .

ANNALS OF NEUROLOGY, 1984, 16 (01) :14-20

[2] 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

[3]

DALE AJD, 1983, ANN NEUROL, V14, P109

[4] TAY-SACHS DISEASE - ONE-STEP ASSAY OF BETA-N-ACETYLHEXOSAMINIDASE IN SERUM WITH A SULFATED CHROMOGENIC SUBSTRATE [J].

FUCHS, W ;

NAVON, R ;

KABACK, MM ;

KRESSE, H .

CLINICA CHIMICA ACTA, 1983, 133 (03) :253-261

[5]

JELLINGER K, 1982, CLIN NEUROPATHOL, V1, P31

[6] NEW JUVENILE HEXOSAMINIDASE DEFICIENCY DISEASE PRESENTING AS CEREBELLAR-ATAXIA - CLINICAL AND BIOCHEMICAL STUDIES [J].

JOHNSON, WG ;

CHUTORIAN, A ;

MIRANDA, A .

NEUROLOGY, 1977, 27 (11) :1012-1018

[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 M, 1978, AM J HUM GENET, V30, pA31

[9]

KOLODNY EH, 1982, NEUROLOGY, V32, P81

[10] MOTOR NEURON DISEASE AND ADULT HEXOSAMINIDASE A DEFICIENCY IN 2 FAMILIES - EVIDENCE FOR MULTISYSTEM DEGENERATION [J].

MITSUMOTO, H ;

SLIMAN, RJ ;

SCHAFER, IA ;

STERNICK, CS ;

KAUFMAN, B ;

WILBOURN, A ;

HORWITZ, SJ .

ANNALS OF NEUROLOGY, 1985, 17 (04) :378-385

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