Type I glycogen storage disease

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Kishnani PS, Austin SL, Abdenur JE, et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014 Nov;16(11):e1.სრული ტექსტი  აბსტრაქტი

გამოყენებული სტატიები

1. Kishnani PS, Austin SL, Abdenur JE, et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014 Nov;16(11):e1.სრული ტექსტი  აბსტრაქტი

2. Xu N, Han X, Zhang Y, et al. Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature. Arthritis Res Ther. 2022 Feb 26;24(1):58.სრული ტექსტი  აბსტრაქტი

3. Ai J, He W, Huang X, et al. A case report of acute pancreatitis with glycogen storage disease type IA in an adult patient and review of the literature. Medicine (Baltimore). 2020 Oct 16;99(42):e22644.სრული ტექსტი  აბსტრაქტი

4. Chou JY, Jun HS, Mansfield BC. Glycogen storage disease type 1 and G6Pase-beta deficiency: etiology and therapy. Nat Rev Endocrinol. 2010 Dec;6(12):676-88.სრული ტექსტი  აბსტრაქტი

5. Ekstein J, Rubin BY, Anderson SL, et al. Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Am J Med Genet A. 2004 Aug 30;129A(2):162-4. აბსტრაქტი

6. Seydewitz HH, Matern D. Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations. Hum Mutat. 2000 Jan;15(1):115-6.სრული ტექსტი  აბსტრაქტი

7. Kim YM, Choi JH, Lee BH, et al. Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia. Orphanet J Rare Dis. 2020 Feb 11;15(1):45.სრული ტექსტი  აბსტრაქტი

8. Lei KJ, Chen YT, Chen H, et al. Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet. 1995 Oct;57(4):766-71.სრული ტექსტი  აბსტრაქტი

9. Chou JY, Matern D, Mansfield BC, et al. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med. 2002 Mar;2(2):121-43. აბსტრაქტი

10. Beyzaei Z, Geramizadeh B. Molecular diagnosis of glycogen storage disease type I: a review. EXCLI J. 2019 Jan 30:18:30-46.სრული ტექსტი  აბსტრაქტი

11. Rake JP, Visser G, Labrune P, et al. Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr. 2002 Oct:161 Suppl 1:S112-9. აბსტრაქტი

12. Wolfsdorf JI, Crigler JF. Effect of continuous glucose therapy begun in infancy on the long-term clinical course of patients with type I glycogen storage disease. J Pediatr Gastroenterol Nutr. 1999 Aug;29(2):136-43.სრული ტექსტი  აბსტრაქტი

13. Wolfsdorf JI, Keller RJ, Landy H, et al. Glucose therapy for glycogenosis type 1 in infants: comparison of intermittent uncooked cornstarch and continuous overnight glucose feedings. J Pediatr. 1990 Sep;117(3):384-91. აბსტრაქტი

14. Wolfsdorf, JI, Ehrlich S, Landy HS, et al. Optimal daytime feeding regimen to prevent postprandial hypoglycemia in type 1 glycogen storage disease. Am J Clin Nutr. 1992 Sep;56(3):587-92. აბსტრაქტი

15. Shah KK, O'Dell SD. Effect of dietary interventions in the maintenance of normoglycaemia in glycogen storage disease type 1a: a systematic review and meta-analysis. J Hum Nutr Diet. 2013 Aug;26(4):329-39. აბსტრაქტი

16. Hayde M, Widhalm K. Effects of cornstarch treatment in very young children with type I glycogen storage disease. Eur J Pediatr. 1990 Jun;149(9):630-3. აბსტრაქტი

17. Derks TG, Martens DH, Sentner CP, et al. Dietary treatment of glycogen storage disease type Ia: uncooked cornstarch and/or continuous nocturnal gastric drip-feeding? Mol Genet Metab. 2013 May;109(1):1-2. აბსტრაქტი

18. Correia CE, Bhattacharya K, Lee PJ, et al. Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib. Am J Clin Nutr. 2008;88:1272-1276.სრული ტექსტი  აბსტრაქტი

19. Bandsma RH, Smit GP, Kuipers F. Disrupted lipid metabolism in glycogen storage disease type 1. Eur J Pediatr. 2002;161:S65-S69. აბსტრაქტი

20. Moosburner S, Wiering L, Gül-Klein S, et al. Over 30 years of pediatric liver transplantation at the Charité-Universitätsmedizin Berlin. J Clin Med. 2022 Feb 9;11(4):900.სრული ტექსტი  აბსტრაქტი

21. Davis MK, Weinstein DA. Liver transplantation in children with glycogen storage disease: controversies and evaluation of the risk/benefit of this procedure. Pediatr Transplant. 2008;12:137-145. აბსტრაქტი

22. Iyer SG, Chen CL, Wang CC, et al. Long-term results of living donor liver transplantation for glycogen storage disorders in children. Liver Transpl. 2007;13:848-852.სრული ტექსტი  აბსტრაქტი

23. Melis D, Minopoli G, Balivo F, et al. Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib. JIMD Rep. 2016;25:39-45.სრული ტექსტი  აბსტრაქტი

24. Ghosh A, Allamarvdasht M, Pan CJ, et al. Long-term correction of murine glycogen storage disease type Ia by recombinant adeno-associated virus-1-mediated gene transfer. Gene Ther. 2006;13:321-329. აბსტრაქტი

25. Weinstein DA, Correia CE, Conlon T, et al. Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type 1a. Hum Gene Ther. 2010;21:903-910. აბსტრაქტი

26. ClinicalTrials.gov. A study of adeno-associated virus serotype 8-mediated gene transfer of glucose-6-phosphatase in patients with glycogen storage disease type Ia (GSDIa)​. ClinicalTrials.gov ID: NCT05139316. Dec 2023 [internet publication].სრული ტექსტი

27. ClinicalTrials.gov. A study of mRNA-3745 in adult and pediatric participants with glycogen storage disease type 1a (GSD1a).​ ClinicalTrials.gov ID: NCT05095727. Oct 2023 [internet publication].სრული ტექსტი

28. Veiga-da-Cunha M, Chevalier N, Stephenne X, et al. Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency. Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1241-50.სრული ტექსტი  აბსტრაქტი

29. Grünert SC, Derks TGJ, Adrian K, et al. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire. Genet Med. 2022 Aug;24(8):1781-8.სრული ტექსტი  აბსტრაქტი

30. Wortmann SB, Van Hove JLK, Derks TGJ, et al. Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor. Blood. 2020 Aug 27;136(9):1033-43.სრული ტექსტი  აბსტრაქტი

31. Weinstein DA, Wolfsdorf JI. Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type Ia glycogen storage disease. Eur J Pediatr. 2002;161:S35-S39. აბსტრაქტი

32. Wang DQ, Fiske LM, Carreras CT, et al. Natural history of hepatocellular adenoma formation in glycogen storage disease type I. J Pediatr. 2011 Sep;159(3):442-6.სრული ტექსტი  აბსტრაქტი

33. Haring MPD, Peeks F, Oosterveer MH, et al. High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia. JHEP Rep. 2022 Aug;4(8):100512.სრული ტექსტი  აბსტრაქტი

34. Dambska M, Labrador EB, Kuo CL, et al. Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control. Pediatr Diabetes. 2017 Aug;18(5):327-31. აბსტრაქტი

35. Kaiser N, Gautschi M, Bosanska L, et al. Glycemic control and complications in glycogen storage disease type I: results from the Swiss registry. Mol Genet Metab. 2019 Apr;126(4):355-61. აბსტრაქტი

36. Chen YT, Coleman RA, Scheinman JI, et al. Renal disease in type 1 glycogen storage disease. N Engl J Med. 1988;318:7-11. აბსტრაქტი

37. Weinstein DA, Somers MJG, Wolfsdorf JI. Decreased urinary citrate excretion in type 1a glycogen storage disease. J Pediatr. 2001 Mar;138(3):378-82. აბსტრაქტი

38. Wolfsdorf JI, Laffel LMB, Crigler JF. Metabolic control and renal dysfunction in type I glycogen storage disease. J Inherit Metab Dis. 1997;20:559-568. აბსტრაქტი

39. Martens DH, Rake JP, Navis G, et al. Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition. Clin J Am Soc Nephrol. 2009;4:1741-1746. აბსტრაქტი

40. Franco LM, Krishnamurthy V, Bali D, et al. Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. J Inherit Metab Dis. 2005;28:153-162. აბსტრაქტი

41. Labrune P, Trioche P, Duvaltier I, et al. Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature. J Pediatr Gastroenterol Nutr. 1997;243:276-279. აბსტრაქტი

42. Weinstein DA, Roy CN, Fleming MD, et al. Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. Blood. 2002;100:3776-3781.სრული ტექსტი  აბსტრაქტი

43. Schwahn B, Rauch F, Wendel U, et al. Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control. J Pediatr. 2002;141:350-356. აბსტრაქტი

44. Martens DH, Rake JP, Schwarz M, et al. Pregnancies in glycogen storage disease type Ia. Am J Obstet Gynecol. 2008 Jun;198(6):646.e1-7.სრული ტექსტი  აბსტრაქტი

45. Grünert SC, Rosenbaum-Fabian S, Schumann A, et al. Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib. JIMD Rep. 2022 May 18;63(4):303-8.სრული ტექსტი  აბსტრაქტი

46. Calderwood S, Kilpatrick L, Douglas SD, et al. Recombinant human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b. Blood. 2001;97:376-382. აბსტრაქტი

47. Melis D, Pivonello R, Parenti G, et al. Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type 1. J Pediatr. 2007;150:300-305. აბსტრაქტი

48. Bernier AV, Correia CE, Haller MJ, et al. Vascular dysfunction in glycogen storage disease type I. J Pediatr. 2009;154:588-591. აბსტრაქტი

49. Peeks F, Hoogeveen IJ, Feldbrugge RL, et al. A retrospective in-depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: recommended outcome parameters for glucose management. J Inherit Metab Dis. 2021 Sep;44(5):1136-50.სრული ტექსტი  აბსტრაქტი

50. Rossi A, Venema A, Haarsma P, et al. A prospective study on continuous glucose monitoring in glycogen storage disease type Ia: toward glycemic targets. J Clin Endocrinol Metab. 2022 Aug 18;107(9):e3612-23.სრული ტექსტი  აბსტრაქტი

51. Restaino I, Kaplan BS, Stanley C, et al. Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease. J Pediatr. 1993;122:392-396. აბსტრაქტი

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