MUCOLIPIDOSIS-I - SIALIDOSIS

被引：82

作者：

SPRANGER, J ^{[1
]}

GEHLER, J ^{[1
]}

CANTZ, M ^{[1
]}

机构：

[1] UNIV MAINZ,KINDER KLIN,DEPT PEDIAT,D-6500 MAINZ,FED REP GER

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1977年 / 1卷 / 01期

关键词：

D O I：

10.1002/ajmg.1320010104

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：21 / 29

页数：9

共 24 条

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COHEN, MM
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[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1975, 66 (04) : 1483 - 1490
[2] BERARD M, 1968, Pathologia Europaea, V3, P172
[3] CONGENITAL CORNEAL CLOUDING WITH ABNORMAL SYSTEMIC STORAGE BODIES - NEW VARIANT OF MUCOLIPIDOSIS
BERMAN, ER
LIVNI, N
SHAPIRA, E
MERIN, S
LEVIJ, IS
[J]. JOURNAL OF PEDIATRICS, 1974, 84 (04) : 519 - 526
[4] BERMAN ER, 1974, CLIN CHIM ACTA, V52, P114
[5] MUCOLIPIDOSIS-1 - INCREASED SIALIC-ACID CONTENT AND DEFICIENCY OF ANALPHA-N-ACETYLNEURAMINIDASE IN CULTURED FIBROBLASTS
CANTZ, M
GEHLER, J
SPRANGER, J
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1977, 74 (02) : 732 - 738
[6] CANTZ M, UNPUBLISHED RESULTS
[7] CANTZ M, 1972, METHOD ENZYMOL, V28, P884
[8] DAWSON G, 1972, J BIOL CHEM, V247, P5951
[9] EEG IN MUCOLIPIDOSIS-1
DOOSE, H
SPRANGER, J
WARNER, M
[J]. NEUROPADIATRIE, 1975, 6 (01): : 98 - 101
[10] FREITAG F, 1971, VIRCHOWS ARCH B, V7, P189