Congenital disorders of glycosylation: Have you encountered them?

被引：18

作者：

Westphal, V ^{[1
]}

Srikrishna, G ^{[1
]}

Freeze, HH ^{[1
]}

机构：

[1] Burnham Inst, La Jolla, CA 92037 USA

来源：

GENETICS IN MEDICINE | 2000年 / 2卷 / 06期

关键词：

D O I：

10.1097/00125817-200011000-00005

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：329 / 337

页数：9

共 93 条

[1]

Adamowicz M, 1996, EUR J PEDIATR, V155, P347

[2] Solution properties of the galactomannans extracted from the seeds of Caesalpinia pulcherrima and Cassia java']javanica:: comparison with locust bean gum [J].

Andrade, CT ;

Azero, EG ;

Luciano, L ;

Gonçalves, MP .

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES, 1999, 26 (2-3) :181-185

[3] Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome [J].

Babovic-Vuksanovic, D ;

Patterson, MC ;

Schwenk, WF ;

O'Brien, JF ;

Vockley, J ;

Freeze, HH ;

Mehta, DP ;

Michels, VV .

JOURNAL OF PEDIATRICS, 1999, 135 (06) :775-781

[4] Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) [J].

Barone, R ;

Pavone, L ;

Fiumara, A ;

Bianchini, R ;

Jaeken, J .

BRAIN & DEVELOPMENT, 1999, 21 (04) :260-263

[5] Leukocyte adhesion deficiency type II [J].

Becker, DJ ;

Lowe, JB .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1999, 1455 (2-3) :193-204

[6] Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families [J].

Bjursell, C ;

Wahlström, J ;

Berg, K ;

Stibler, H ;

Kristiansson, B ;

Matthijs, G ;

Martinsson, T .

EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 (06) :603-611

[7] A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide [J].

Burda, P ;

Borsig, L ;

de Rijk-van Andel, J ;

Wevers, R ;

Jaeken, J ;

Carchon, H ;

Berger, EG ;

Aebi, M .

JOURNAL OF CLINICAL INVESTIGATION, 1998, 102 (04) :647-652

[8] COMPLEX ASPARAGINE-LINKED OLIGOSACCHARIDES IN MGAT1-NULL EMBRYOS [J].

CAMPBELL, RM ;

METZLER, M ;

GRANOVSKY, M ;

DENNIS, JW ;

MARTH, JD .

GLYCOBIOLOGY, 1995, 5 (05) :535-543

[9]

Charlwood J, 1998, PRENATAL DIAG, V18, P693

[10] Defective galactosylation of serum transferrin in galactosemia [J].

Charlwood, J ;

Clayton, P ;

Keir, G ;

Mian, N ;

Winchester, B .

GLYCOBIOLOGY, 1998, 8 (04) :351-357

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