I型糖原贮积病

Chou JY, Jun HS, Mansfield BC. Glycogen storage disease type 1 and G6Pase-beta deficiency: etiology and therapy. Nat Rev Endocrinol. 2010;6:676-688.

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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;161:s112-s119.

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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;29:136-143.

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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;117:384-391.

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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;56:587-592.

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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;26:329-339.

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1.  Chen YT. Glycogen storage diseases. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The metabolic and molecular bases of inherited disease, Vol. 1, 8th ed. New York, NY: McGraw-Hill 2001;1521-1555.

2.  Chou JY, Jun HS, Mansfield BC. Glycogen storage disease type 1 and G6Pase-beta deficiency: etiology and therapy. Nat Rev Endocrinol. 2010;6:676-688.

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3.  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;161:s112-s119.

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4.  American College of Medical Genetics and Genomics. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. 2014. https://www.acmg.net/ (last accessed 24 October 2016).

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5.  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;29:136-143.

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6.  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;117:384-391.

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7.  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;56:587-592.

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8.  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;26:329-339.

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9.  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.

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10.  Ross KM, Brown LM, Corrado MM, et al. Safety and efficacy of chronic extended release cornstarch therapy for glycogen storage disease type I. JIMD Rep. 2016;26:85-90.

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

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12.  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.

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13.  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.

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14.  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.

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15.  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.

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16.  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.

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17.  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.

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18.  Martens DH, Rake JP, Schwarz M, et al. Pregnancies in glycogen storage disease type Ia. Am J Obstet Gynecol. 2008;198:646.e1-e7.

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19.  Dagli AI, Lee PJ, Correia CE, et al. Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries. J Inherit Metab Dis. 2010;33:s151-s157.

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

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21.  Weinstein DA, Somers MJG, Wolfsdorf JI. Decreased urinary citrate excretion in type 1a glycogen storage disease. J Pediatr. 2001;138:378-382.

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22.  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.

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23.  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.

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24.  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.

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25.  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.

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26.  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.

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27.  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.

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28.  Visser G, Rake JP, Fernandes J, et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European study on Glycogen Storage Disease type I. J Pediatr. 2000;137:187-191.

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29.  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.

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30.  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.

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

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32.  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.

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