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Literature DB >> 6313372

Glycogen storage disease type Ib.

Abstract

Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, growth retardation, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus neutropenia. The overall glucose-6-phosphatase activity in disrupted microsomes from liver is normal whereas glucose-6-phosphate translocase, the first enzyme in the glucose-6-phosphate transport system is absent. There is no glucose-6-phosphatase activity in vivo. Recent results show that in granulocytes the glucose-6-phosphate-dependent hexosemonophosphate-shunt is impaired.

Entities: Chemical Disease Gene

Mesh：

Substances：

Year: 1983 PMID： 6313372 DOI： 10.1007/bf00442664

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

42 in total

1. Studies in liver glycogen disease. Effects of glucagon and other agents on metabolic pattern and clinical status.

Authors: C U LOWE; J E SOKAL; L L MOSOVICH; E J SARCIONE; B H DORAY
Journal: Am J Med Date: 1962-07 Impact factor: 4.965

2. Studies on a patient with in vivo evidence of type I glycogenosis and normal enzyme activities in vitro.

Authors: R A Chalmers; B E Ryman; R W Watts
Journal: Acta Paediatr Scand Date: 1978-03

3. [On 3 cases of glycogenosis with predominantly hepatic symptoms (type 1 b, type VI or type VII o Hers?, type III)].

Authors: A G Marchi; A Berio; E Bertolotti; S Nordio
Journal: Minerva Pediatr Date: 1967-04-07 Impact factor: 1.312

4. Lactate as energy source for brain in glucose-6-phosphatase deficient child.

Authors: J Fernandes; R Berger; G P Smit
Journal: Lancet Date: 1982-01-09 Impact factor: 79.321

5. Neutropenia in a patient with type IB glycogen storage disease: in vitro response to lithium chloride.

Authors: E R McCabe; T R Melvin; D O'Brien; R R Montgomery; W A Robinson; C Bhasker; B I Brown
Journal: J Pediatr Date: 1980-12 Impact factor: 4.406

6. Differentiation between glycogenosis types Ia and Ib by measurement of extra respiration during phagocytosis by polymorphonuclear leukocytes?

Authors: K Heyne; M Gahr
Journal: Eur J Pediatr Date: 1980 Impact factor: 3.183

7. In vivo evidence for defective activity of glucose-6-phosphatase in type IB glycogenosis.

Authors: L Sann; M Mathieu; J Bourgeois; J Bienvenu; M Bethenod
Journal: J Pediatr Date: 1980-04 Impact factor: 4.406

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

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

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. A new variant of glycogen storage disease type 1: probably due to a defect in the glucose-6-phosphate transport system.

Authors: Y Igarashi; H Otomo; K Narisawa; K Tada
Journal: J Inherit Metab Dis Date: 1980 Impact factor: 4.982

19 in total

10. Improvement of neutropenia and neutrophil dysfunction by granulocyte colony-stimulating factor in a patient with glycogen storage disease type Ib.

Authors: A Ishiguro; T Nakahata; T Shimbo; Y Amano; K Yasui; K Koike; A Komiyama
Journal: Eur J Pediatr Date: 1993-01 Impact factor: 3.183

Glycogen storage disease type Ib.

1. Studies in liver glycogen disease. Effects of glucagon and other agents on metabolic pattern and clinical status.

2. Studies on a patient with in vivo evidence of type I glycogenosis and normal enzyme activities in vitro.

3. [On 3 cases of glycogenosis with predominantly hepatic symptoms (type 1 b, type VI or type VII o Hers?, type III)].

4. Lactate as energy source for brain in glucose-6-phosphatase deficient child.

5. Neutropenia in a patient with type IB glycogen storage disease: in vitro response to lithium chloride.

6. Differentiation between glycogenosis types Ia and Ib by measurement of extra respiration during phagocytosis by polymorphonuclear leukocytes?

7. In vivo evidence for defective activity of glucose-6-phosphatase in type IB glycogenosis.

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

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.

10. A new variant of glycogen storage disease type 1: probably due to a defect in the glucose-6-phosphate transport system.

1. Uptake and transport of hexoses into polymorphonuclear leukocytes of patients with glycogen storage disease type 1b.

2. Impaired glucose transport in polymorphonuclear leukocytes in glycogen storage disease Ib.

3. Normal polymorphonuclear neutrophil function in a case of glycogen storage disease type Ib.

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

5. A method for the diagnosis of glycogen storage disease type Ib using polymorphonuclear leukocytes.

6. Glucose production rates in type 1 glycogen storage disease.

7. Intact natural killer activity in glycogenosis type Ib.

8. Impaired monocyte function in glycogen storage disease type Ib.

Review 9. Glycogen storage disease: recommendations for treatment.

10. Improvement of neutropenia and neutrophil dysfunction by granulocyte colony-stimulating factor in a patient with glycogen storage disease type Ib.