Carbohydrate deficient glycoprotein (CDG) syndrome type I

被引:78
作者
Jaeken, J
Matthijs, G
Barone, R
Carchon, H
机构
[1] UNIV HOSP GASTHUISBERG,DEPT PAEDIAT,B-3000 LOUVAIN,BELGIUM
[2] CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,B-3000 LOUVAIN,BELGIUM
关键词
carbohydrate deficient glycoprotein syndrome;
D O I
10.1136/jmg.34.1.73
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:73 / 76
页数:4
相关论文
共 33 条
[11]   FAMILIAL PSYCHOMOTOR RETARDATION WITH MARKEDLY FLUCTUATING SERUM PROLACTIN, FSH AND GH LEVELS, PARTIAL TBG-DEFICIENCY, INCREASED SERUM ARYLSULFATASE-A AND INCREASED CSF PROTEIN - NEW SYNDROME [J].
JAEKEN, J ;
VANDERSCHUERENLODEWEYCKX, M ;
CASAER, P ;
SNOECK, L ;
CORBEEL, L ;
EGGERMONT, E ;
EECKELS, R .
PEDIATRIC RESEARCH, 1980, 14 (02) :179-179
[12]   THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES - AN OVERVIEW [J].
JAEKEN, J ;
CARCHON, H .
JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (05) :813-820
[13]   SERUM LYSOSOMAL-ENZYME ABNORMALITIES IN GALACTOSEMIA [J].
JAEKEN, J ;
KINT, J ;
SPAAPEN, L .
LANCET, 1992, 340 (8833) :1472-1473
[14]  
JAEKEN J, 1987, LANCET, V3, P1398
[15]  
Jaeken J, 1991, ACTA PAEDIAT SCAND S, V375
[16]  
KEPES F, 1988, J BIOL CHEM, V263, P9155
[17]   GONADAL-FUNCTION AND GLYCOPROTEIN HORMONES IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME [J].
KRISTIANSSON, B ;
STIBLER, H ;
WIDE, L .
ACTA PAEDIATRICA, 1995, 84 (06) :655-659
[18]  
MARTINSSON T, 1994, HUM MOL GENET, V3, P2037
[19]   Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1) [J].
Matthijs, G ;
Legius, E ;
Schollen, E ;
Vandenberk, P ;
Jaeken, J ;
Barone, R ;
Fiumara, A ;
Visser, G ;
Lambert, M ;
Cassiman, JJ .
GENOMICS, 1996, 35 (03) :597-599
[20]   ENZYMES INVOLVED IN THE SYNTHESIS OF MANNOSE-6-PHOSPHATE FROM GLUCOSE ARE NORMAL IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME FIBROBLASTS [J].
PANNEERSELVAM, K ;
FREEZE, HH .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1995, 208 (02) :517-522