Гликогенозы: литература
1. Aynsley-Green A, et al. The dietary treatment ofglycogen synthetase deficiency. Helv Paediatr Acta 32:71, 1977.
2. Aynsley-Green A, et al. Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl Arch Dis Child 52:573, 1977.
3. Baker L, et al. Hyperfiltration and renal disease in glycogen storage disease, type 1. Kidney Int 35:1345, 1989.
4. Bier DM, et al. Measurement of "true" glucose production rates in infancy and childhood with 6,6-dideutero-glucose. Diabetes 26:1016, 1977.
5. Burchell A. Molecular pathology of glucose-6-phosphatase FASEB J 4:2978,1990.
6. Chen Y-T, et al. Renal disease in type 1 glycogen storage disease. N Engi JMed 318:7, 1988.
7. Chen Y-T, et al. Cornstarch therapy in type 1 glycogen storage disease N Engi JMed 31:171, 1984.
8. Crigler JF, Jr, Folkman J. Glycogen storage disease: New approaches to therapy. In R Porter, J Whelan (eds), Hepatotrophic factors Ciba Found Symp 55:331, 1978.
9. Dahan N, et al. Use of platelets, mononuclear, and polymorphonuclear cells in the diagnosis ofglycogen storage disease type VI. J Inherited Metab Dis 11:253, 1988.
10. DiMauro S, et al. Debrancher deficiency: Neuromuscular disorder in five adults. Ann Neurol 5:422,1979.
11. Dunger DB, Leonard JV. Value of the glucagon test in screening for hepatic glycogen storage disease. Arch Dis Child 57:384, 1982.
12. Fernandes J, Pikaar NA. Ketosis in hepatic glycogenosis Arch Dis Child 47:41, 1972.
13. Garibaldi LR, et al. Dextrothyroxine treatment of phosphorylase kinase deficiency glycogenosis in four boys. Helv Paediatr Acta 33:435, 1978.
14. Greene HL, et al. Type 1 glycogen storage disease: A metabolic basis for advances in treatment. Adv Pediatr 26:63, 1979.
15. Greene HL, et al. Hyperlipidemia and fatty acid composition in patients treated for type 1A glycogen storage disease. J Pediatr 119:398, 1991.
16. Gremse DA, et al. Efficacy ofcornstarch therapy in type IIIglycogen-storage disease. Am J Clin Nutr 52:671, 1990.
17. Hers HG. The control ofglycogen metabolism in the liver Annu Rev Bi-ochem45:167, 1976.
18. Hers H-G, et al. Glycogen storage diseases. In CR Scriver, et al (eds), The Metabolic Basis of Inherited Disease (6th ed). New York- McGraw-Hill 1989. P. 425.
19. Hug G, et al. Phosphorylase kinase of the liver: Deficiency in a girl with increased hepatic glycogen. Science 153:1534, 1966.
20. Huijing F, Fernandes J. X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. Am J Hum Genet 21:275, 1969.
21. Moses S. Pathophysiology and dietary treatment of the glycogen storage diseases. J Pediatr Gastroenterol Nutr 11:155, 1990.
22. Narisawa K, et al. Glycogen storage disease type Ib: Genetic disorder involving the transport system of intracellular membrane. Enzyme 38:177 1987.
23. Schaub J, Heyne K. Glycogen storage disease type Ib. Eur J Pediatr 140:283, 1983.
24. Slonim AE, et al. Amino acid disturbances in type III glycogenosis: Differences from type I glycogenosis. Metabolism 32:70,1983.
25. Slonim AE, et al. Reversal of debrancher deficiency myopathy by the use of high-protein nutrition. Ann Neurol 11:420, 1982.
26. Willems PJ, et al. The natural history of liver glycogenosis due to phosphorylase kinase deficiency: A longitudinal study of 41 patients. Eur J Pediatr 149:268, 1990.
27. Wolfsdorf JI, et al. Glucose therapy for glycogenosis type 1 in infants: Comparison of intermittent uncooked cornstarch and continuous overnight glucose feedings. J Pediatr 117:384, 1990.
28. Wolfsdorf JI, et al. Continuous glucose for treatment of patients with type 1 glycogen-storage disease: Comparison of the effects of dextrose and uncooked cornstarch on biochemical variables. Am J Clin Nutr 52:1043, 1990.
29. Wolfsdorf JI, et al. Physical growth and development of children with type 1 glycogen-storage disease: Comparison of the effects of long- term use of dextrose and uncooked cornstarch. Am J Clin Nutr 52:1051,1990.
