Type I glycogen storage disease

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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. Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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

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. Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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.Full text  Abstract

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

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.Full text  Abstract

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. Abstract

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.Full text  Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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].Full text

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].Full text

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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. Abstract

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.Full text  Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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.Full text  Abstract

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. Abstract

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.Full text  Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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

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.Full text  Abstract

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.Full text  Abstract

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. Abstract