Literature DB >> 6334607

Glycogen storage disease type Ib: familial bleeding tendency.

K Heyne, D Hosenfeld, W Grote, J Schaub.   

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.

Entities:  

Mesh：

Substances：

Year:  1984        PMID： 6334607     DOI： 10.1007/bf00442739

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  26 in total

1.  A one-stage factor VIII (antihaemophilic globulin) assay and its use on venous and capillary plasma.

Authors:  R M HARDISTY; J C MACPHERSON
Journal:  Thromb Diath Haemorrh       Date:  1962-05-15

Review 2.  Pathways of oxygen utilization by stimulated platelets and leukocytes.

Authors:  A J Marcus
Journal:  Semin Hematol       Date:  1979-07       Impact factor: 3.851

Review 3.  Glycoproteins: their biochemistry, biology and role in human disease (first of two parts).

Authors:  R G Spiro
Journal:  N Engl J Med       Date:  1969-10-30       Impact factor: 91.245

Review 4.  Von Willebrand's disease.

Authors:  T S Zimmerman; Z M Ruggeri
Journal:  Prog Hemost Thromb       Date:  1982

5.  Correction of neutropenia by portacaval shunt in type IB glycogen storage disease.

Authors: 
Journal:  J Pediatr       Date:  1982-01       Impact factor: 4.406

6.  Glycogenosis type Ib complicated by severe granulocytopenia resembling inherited neutropenia.

Authors:  C R Bartram; H Przyrembel; U Wendel; H J Bremer; J Schaub; J R Haas
Journal:  Eur J Pediatr       Date:  1981-09       Impact factor: 3.183

7.  Elevated antihemophilic factor (AHF, factor VIII) procoagulant activity and AHF-like antigen in alcoholic cirrhosis of the liver.

Authors:  A J Green; O D Ratnoff
Journal:  J Lab Clin Med       Date:  1974-02

8.  Impaired metabolic function of polymorphonuclear leukocytes in glycogen storage disease Ib.

Authors:  M Gahr; K Heyne
Journal:  Eur J Pediatr       Date:  1983-09       Impact factor: 3.183

9.  Evidence for the participation of independent translocation for phosphate and glucose 6-phosphate in the microsomal glucose-6-phosphatase system. Interactions of the system with orthophosphate, inorganic pyrophosphate, and carbamyl phosphate.

Authors:  W J Arion; A J Lange; H E Walls; L M Ballas
Journal:  J Biol Chem       Date:  1980-11-10       Impact factor: 5.157

10.  Characterization of the defect of the factor VIII/von Willebrand factor protein in von Willebrand's disease.

Authors:  H R Gralnick; M C Cregger; S B Williams
Journal:  Blood       Date:  1982-03       Impact factor: 22.113
View more
  2 in total

1.  Glycogen storage disease Ib: modification of alpha 1-antitrypsin glycoprotein microheterogeneity.

Authors:  K Heyne; J Henke-Wolter
Journal:  Eur J Pediatr       Date:  1989-01       Impact factor: 3.183

2.  Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia.

Authors:  C Mühlhausen; R Schneppenheim; U Budde; M Merkel; N Muschol; K Ullrich; R Santer
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.750
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.