THE MUCOLIPIDOSES - IDENTIFICATION BY ABNORMAL ELECTROPHORETIC PATTERNS OF LYSOSOMAL HYDROLASES

被引：19

作者：

HONEY, NK ^{[1
]}

MILLER, AL ^{[1
]}

SHOWS, TB ^{[1
]}

机构：

[1] UNIV CALIF SAN DIEGO,SCH MED,DEPT NEUROSCI,SAN DIEGO,CA 92103

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1981年 / 9卷 / 03期

关键词：

D O I：

10.1002/ajmg.1320090310

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：239 / 253

页数：15

共 55 条

[1] MUCOLIPIDOSIS TYPE-IV - GANGLIOSIDE SIALIDASE DEFICIENCY [J].

BACH, G ;

ZEIGLER, M ;

SCHAAP, T ;

KOHN, G .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1979, 90 (04) :1341-1347

[2] CONGENITAL CORNEAL CLOUDING WITH ABNORMAL SYSTEMIC STORAGE BODIES - NEW VARIANT OF MUCOLIPIDOSIS [J].

BERMAN, ER ;

LIVNI, N ;

SHAPIRA, E ;

MERIN, S ;

LEVIJ, IS .

JOURNAL OF PEDIATRICS, 1974, 84 (04) :519-526

[3] MUCOLIPIDOSIS-1 - INCREASED SIALIC-ACID CONTENT AND DEFICIENCY OF ANALPHA-N-ACETYLNEURAMINIDASE IN CULTURED FIBROBLASTS [J].

CANTZ, M ;

GEHLER, J ;

SPRANGER, J .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1977, 74 (02) :732-738

[4]

CHAMPION MJ, 1977, AM J HUM GENET, V29, P149

[5] LYSOSOMAL ARYLSULFATASE DEFICIENCIES IN HUMANS - CHROMOSOME ASSIGNMENTS FOR ARYLSULFATASE-A AND ARYLSULFATASE-B [J].

DELUCA, C ;

BROWN, JA ;

SHOWS, TB .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1979, 76 (04) :1957-1961

[6]

DENTANDT WR, 1974, J LAB CLIN MED, V83, P403

[7] ELECTROPHORETIC CHARACTERIZATION OF ACIDIC AND NEUTRAL AMYLO 1-4-GLUCOSIDASE (ACID MALTASE) IN HUMAN TISSUES AND EVIDENCE FOR 2 ELECTROPHORETIC VARIANTS IN ACID MALTASE DEFICIENCY [J].

DREYFUS, JC ;

ALEXANDRE, Y .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1972, 48 (04) :914-+

[8]

ERICKSON AH, 1979, J BIOL CHEM, V254, P1771

[9]

FRISCH A, 1980, FED PROC, V39, P1866

[10] GENETIC-HETEROGENEITY IN MULTIPLE LYSOSOMAL HYDROLASE DEFICIENCY [J].

GLASER, JH ;

MCALISTER, WH ;

SLY, WS .

JOURNAL OF PEDIATRICS, 1974, 85 (02) :192-198

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