ULTRASTRUCTURAL PATHOLOGY OF SKIN BIOPSY AND FIBROBLAST ENZYME STUDIES IN A CASE OF GM2-GANGLIOSIDOSIS WITH DEFICIENT HEXOSAMINIDASE-A AND THERMOLABILE HEXOSAMINIDASE-B

被引：13

作者：

BURCK, U

HARZER, K

GOEBEL, HH

ELZE, KL

HELD, KR

CARSTENS, L

机构：

[1] UNIV TUBINGEN,INST BRAIN RES,D-7400 TUBINGEN 1,FED REP GER

[2] UNIV GOTTINGEN,DIV NEUROPATHOL,D-3400 GOTTINGEN,FED REP GER

[3] ALTONA GEN HOSP,DEPT OPHTHALMOL,HAMBURG,FED REP GER

[4] CHILDRENS HOSP ALTONA,HAMBURG,FED REP GER

来源：

NEUROPADIATRIE | 1980年 / 11卷 / 02期

关键词：

D O I：

10.1055/s-2008-1071386

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：161 / 175

页数：15

共 28 条

[1] THE ASSAY OF ARYLSULPHATASE-A AND ARYLSULPHATASE-B IN HUMAN URINE [J].

BAUM, H ;

DODGSON, KS ;

SPENCER, B .

CLINICA CHIMICA ACTA, 1959, 4 (03) :453-455

[2] METACHROMATIC LEUCODYSTROPHY [J].

COGAN, DG ;

KUWABARA, T ;

MOSER, H .

OPHTHALMOLOGICA, 1970, 160 (1-2) :2-&

[3] AB-VARIANT OF INFANTILE GM2 GANGLIOSIDOSIS - DEFICIENCY OF A FACTOR NECESSARY FOR STIMULATION OF HEXOSAMINIDASE A-CATALYZED DEGRADATION OF GANGLIOSIDE GM2 AND GLYCOLIPID GA2 [J].

CONZELMANN, E ;

SANDHOFF, K .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1978, 75 (08) :3979-3983

[4]

DEBAEQUE CM, 1975, ACTA NEUROPATHOL, V33, P207

[5] FINE-STRUCTURE OF CUTANEOUS NERVES IN GANGLIOSIDE STORAGE DISEASE [J].

DOLMAN, CL ;

MACLEOD, PM ;

CHANG, E .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1977, 40 (06) :588-594

[6] ULTRASTRUCTURE OF SURAL NERVE IN POMPES DISEASE [J].

GOEBEL, HH ;

LENARD, HG ;

KOHLSCHUTTER, A ;

PILZ, H .

ANNALS OF NEUROLOGY, 1977, 2 (02) :111-115

[7] FINE-STRUCTURE OF RETINA IN NEURONAL CEROID-LIPOFUSCINOSIS [J].

GOEBEL, HH ;

FIX, JD ;

ZEMAN, W .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 1974, 77 (01) :25-39

[8] FINE STRUCTURE OF NEOCORTICAL SYNAPSES IN INFANTILE AMAUROTIC IDIOCY [J].

GONATAS, NK ;

BAIRD, HW ;

EVANGELISTA, I .

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1968, 27 (01) :39-+

[9] PRENATAL DIAGNOSIS OF GLOBOID-CELL LEUKODYSTROPHY (KRABBES DISEASE) - 3RD DOCUMENTED CASE [J].

HARZER, K .

HUMAN GENETICS, 1977, 35 (02) :193-196

[10]

HARZER K, 1970, Z ANAL CHEM FRESENIU, V252, P170

← 1 2 3 →