Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism

被引：25

作者：

Cormier-Daire, V

Amiel, J

Vuillaumier-Barrot, S

Tan, J

Durand, G

Munnich, A

Le Merrer, M

Seta, N

机构：

[1] Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

[2] Hop Necker Enfants Malad, INSERM, U393, F-75743 Paris, France

[3] Hosp Sick Children, Dept Biochem, Toronto, ON M5G 1X8, Canada

[4] Hop Bichat Claude Bernard, Dept Biochem, F-75877 Paris 18, France

[5] Fac Pharm, Lab Hyg & Sante Publ, Paris, France

来源：

JOURNAL OF MEDICAL GENETICS | 2000年 / 37卷 / 11期

关键词：

D O I：

10.1136/jmg.37.11.875

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：875 / 877

页数：3

共 13 条

[1]

CHARUK JHM, 1995, EUR J BIOCHEM, V230, P797

[2] CARBOHYDRATE-DEFICIENT GLYCOPROTEIN-SYNDROME TYPE-II - A DEFICIENCY IN GOLGI LOCALIZED N-ACETYL-GLUCOSAMINYLTRANSFERASE-II [J].

JAEKEN, J ;

SCHACHTER, H ;

CARCHON, H ;

DECOCK, P ;

CODDEVILLE, B ;

SPIK, G .

ARCHIVES OF DISEASE IN CHILDHOOD, 1994, 71 (02) :123-127

[3] Carbohydrate deficient glycoprotein (CDG) syndrome type I [J].

Jaeken, J ;

Matthijs, G ;

Barone, R ;

Carchon, H .

JOURNAL OF MEDICAL GENETICS, 1997, 34 (01) :73-76

[4]

JAEKEN J, 1991, INT PEDIAT, V6, P179

[5] Carbohydrate-deficient glycoprotein syndrome type V:: Deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase [J].

Körner, C ;

Knauer, R ;

Holzbach, U ;

Hanefeld, F ;

Lehle, L ;

von Figura, K .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (22) :13200-13205

[6] Carbohydrate-deficient glycoprotein syndrome type Ib -: Phosphomannose isomerase deficiency and mannose therapy [J].

Niehues, R ;

Hasilik, M ;

Alton, G ;

Körner, C ;

Schiebe-Sukumar, M ;

Koch, HG ;

Zimmer, KP ;

Wu, RR ;

Harms, E ;

Reiter, K ;

von Figura, K ;

Freeze, HH ;

Harms, HK ;

Marquardt, T .

JOURNAL OF CLINICAL INVESTIGATION, 1998, 101 (07) :1414-1420

[7] A NEW VARIANT OF THE CARBOHYDRATE-DEFICIENT GLYCOPROTEINS SYNDROME [J].

RAMAEKERS, VT ;

STIBLER, H ;

KINT, J ;

JAEKEN, J .

JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (03) :385-388

[8] Carbohydrate-deficient glycoprotein syndrome type II [J].

Schachter, H ;

Jaeken, J .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1999, 1455 (2-3) :179-192

[9] Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome [J].

Seta, N ;

Barnier, A ;

Hochedez, F ;

Besnard, MA ;

Durand, G .

CLINICA CHIMICA ACTA, 1996, 254 (02) :131-140

[10]

Tan J, 1996, AM J HUM GENET, V59, P810

← 1 2 →