GENETIC-HETEROGENEITY AND CLINICAL VARIABILITY IN THE SANFILIPPO SYNDROME (TYPE-A, TYPE-B, AND TYPE-C)

被引：0
作者：
VANDEKAMP, JJP
NIERMEIJER, MF
VONFIGURA, K
GIESBERTS, MAH
机构：
[1] ERASMUS UNIV,DEPT CELL BIOL & GENET,ROTTERDAM,NETHERLANDS
[2] UNIV MUNSTER,INST PHYSIOL CHEM,D-4400 MUNSTER,FED REP GER
来源：
CLINICAL GENETICS | 1981年 / 20卷 / 02期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
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页码：152 / 160
页数：9
相关论文
共 20 条
[1]  
ANDRIA G, 1979, CLIN GENET, V15, P500
[2]   SANFILIPPO TYPE-C DISEASE - CLINICAL FINDINGS IN 4 PATIENTS WITH A NEW VARIANT OF MUCOPOLYSACCHARIDOSIS-III [J].
BARTSOCAS, C ;
GROBE, H ;
VANDEKAMP, JJP ;
FIGURA, KV ;
KRESSE, H ;
KLEIN, U ;
GIESBERTS, MAH .
EUROPEAN JOURNAL OF PEDIATRICS, 1979, 130 (04) :251-258
[3]  
FARRIAUX JP, 1974, HELV PAEDIATR ACTA, V29, P349
[4]   SANFILIPPO SYNDROME TYPE-C - DEFICIENCY OF ACETYL-COA - ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE IN SKIN FIBROBLASTS [J].
KLEIN, U ;
KRESSE, H ;
VONFIGURA, K .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1978, 75 (10) :5185-5189
[5]   MUCOPOLYSACCHARIDOSIS III A (SANFILIPPO A DISEASE) - DEFICIENCY OF A HEPARIN SULFAMIDASE IN SKIN FIBROBLASTS AND LEUKOCYTES [J].
KRESSE, H .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1973, 54 (03) :1111-1118
[6]  
KRESSE H, 1976, CLIN GENET, V10, P364
[7]  
KRESSE H, 1972, J BIOL CHEM, V247, P2164
[8]   SANFILIPPO DISEASE TYPE-D - DEFICIENCY OF N-ACETYLGLUCOSAMINE-6-SULFATE SULFATASE REQUIRED FOR HEPARAN-SULFATE DEGRADATION [J].
KRESSE, H ;
PASCHKE, E ;
VONFIGURA, K ;
GILBERG, W ;
FUCHS, W .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1980, 77 (11) :6822-6826
[9]   BIOCHEMICAL HETEROGENEITY OF SANFILIPPO SYNDROME - PRELIMINARY CHARACTERIZATION OF 2 DEFICIENT FACTORS [J].
KRESSE, H ;
WIESMANN, U ;
CANTZ, M ;
HALL, CW ;
NEUFELD, EF .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1971, 42 (05) :892-&
[10]  
LAMBOTTE C, 1975, TEV MED LIEGE, V30, P751
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