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1b型糖原贮积病:家族性出血倾向。

Glycogen storage disease type Ib: familial bleeding tendency.

作者信息

Heyne K, Hosenfeld D, Grote W, Schaub J

出版信息

Eur J Pediatr. 1984 Nov;143(1):7-9. doi: 10.1007/BF00442739.

DOI:10.1007/BF00442739
PMID:6334607
Abstract

A mild bleeding tendency with characteristics of the von Willebrand disease was documented in family members of a girl with glycogen storage disease type Ib (GSD) Ib). It was assumed that a defective glucose-6-phosphate dependent microsomal glycoprotein synthesis was involved in the bleeding disorder of the patient and the GSD Ib heterozygotes.

摘要

在一名患有I型糖原贮积病(GSD)Ib的女孩的家庭成员中记录到一种具有血管性血友病特征的轻度出血倾向。据推测,一种依赖葡萄糖-6-磷酸的微粒体糖蛋白合成缺陷与该患者及GSD Ib杂合子的出血性疾病有关。

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Glycogen storage disease type Ib: familial bleeding tendency.1b型糖原贮积病:家族性出血倾向。
Eur J Pediatr. 1984 Nov;143(1):7-9. doi: 10.1007/BF00442739.
2
Hypofibrinogenemia-dysfibrinogenemia and von Willebrand's disease in the same family.
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Von Willebrand's disease in an Icelandic family.一个冰岛家族中的血管性血友病
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引用本文的文献

1
Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia.Ia型糖原贮积病患者血管性血友病因子抗原(VWF:Ag)的血浆浓度降低。
J Inherit Metab Dis. 2005;28(6):945-50. doi: 10.1007/s10545-005-0184-9.
2
Glycogen storage disease Ib: modification of alpha 1-antitrypsin glycoprotein microheterogeneity.糖原贮积病Ib:α1-抗胰蛋白酶糖蛋白微异质性的改变
Eur J Pediatr. 1989 Jan;148(4):341-3. doi: 10.1007/BF00444130.

本文引用的文献

1
A one-stage factor VIII (antihaemophilic globulin) assay and its use on venous and capillary plasma.一期因子VIII(抗血友病球蛋白)测定及其在静脉血浆和毛细血管血浆中的应用。
Thromb Diath Haemorrh. 1962 May 15;7:215-28.
2
Selective binding of the factor VIII/von Willebrand factor protein to human platelets.凝血因子VIII/血管性血友病因子蛋白与人血小板的选择性结合。
Blood. 1980 Jan;55(1):9-15.
3
Correction of neutropenia by portacaval shunt in type IB glycogen storage disease.经门腔分流术纠正ⅠB型糖原贮积病中的中性粒细胞减少症
J Pediatr. 1982 Jan;100(1):168-9. doi: 10.1016/s0022-3476(82)80266-7.
4
Glycogenosis type Ib complicated by severe granulocytopenia resembling inherited neutropenia.1b型糖原贮积病并发严重粒细胞减少症,类似遗传性中性粒细胞减少症。
Eur J Pediatr. 1981 Sep;137(1):81-4. doi: 10.1007/BF00441175.
5
Von Willebrand's disease.血管性血友病
Prog Hemost Thromb. 1982;6:203-36.
6
Characterization of the defect of the factor VIII/von Willebrand factor protein in von Willebrand's disease.血管性血友病因子Ⅷ/血管性血友病因子蛋白缺陷在血管性血友病中的特征
Blood. 1982 Mar;59(3):542-8.
7
Factor VIII/von Willebrand protein. Modification of its carbohydrate causes reduced binding to platelets.凝血因子VIII/血管性血友病因子。其碳水化合物修饰导致与血小板的结合减少。
J Biol Chem. 1980 Nov 10;255(21):10134-9.
8
Impaired metabolic function of polymorphonuclear leukocytes in glycogen storage disease Ib.糖原贮积病Ib型中多形核白细胞代谢功能受损。
Eur J Pediatr. 1983 Sep;140(4):329-30. doi: 10.1007/BF00442674.
9
Haematological findings in type Ib glycogen storage disease before and after portacaval shunt.Ib型糖原贮积病患者门腔分流术前及术后的血液学检查结果
Eur J Pediatr. 1983 Jun-Jul;140(3):273-5. doi: 10.1007/BF00443375.
10
Short communication. Glycogenosis Ib: neutrophil microbicidal defects due to impaired hexose monophosphate shunt.简短通讯。糖原贮积病Ib型:由于磷酸己糖旁路受损导致的中性粒细胞杀菌缺陷。
Pediatr Res. 1984 Mar;18(3):297-9. doi: 10.1203/00006450-198403000-00019.