Referências
Principais artigos
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.Texto completo Resumo
Artigos de referência
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.Texto completo Resumo
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.Texto completo Resumo
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.Texto completo Resumo
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.Texto completo Resumo
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. Resumo
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.Texto completo Resumo
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.Texto completo Resumo
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.Texto completo Resumo
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.Texto completo Resumo
10. Beyzaei Z, Geramizadeh B. Molecular diagnosis of glycogen storage disease type I: a review. EXCLI J. 2019 Jan 30:18:30-46.Texto completo Resumo
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. Resumo
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.Texto completo Resumo
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. Resumo
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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. Resumo
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. Resumo
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. Resumo
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.Texto completo Resumo
19. Bandsma RH, Smit GP, Kuipers F. Disrupted lipid metabolism in glycogen storage disease type 1. Eur J Pediatr. 2002;161:S65-S69. Resumo
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.Texto completo Resumo
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. Resumo
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.Texto completo Resumo
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.Texto completo Resumo
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. Resumo
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. Resumo
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].Texto completo
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].Texto completo
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.Texto completo Resumo
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.Texto completo Resumo
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.Texto completo Resumo
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. Resumo
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.Texto completo Resumo
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.Texto completo Resumo
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. Resumo
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. Resumo
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. Resumo
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. Resumo
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. Resumo
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. Resumo
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. Resumo
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. Resumo
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.Texto completo Resumo
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. Resumo
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.Texto completo Resumo
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.Texto completo Resumo
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. Resumo
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. Resumo
48. Bernier AV, Correia CE, Haller MJ, et al. Vascular dysfunction in glycogen storage disease type I. J Pediatr. 2009;154:588-591. Resumo
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.Texto completo Resumo
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.Texto completo Resumo
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. Resumo
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