• Chou JY, Matern D, Mansfield BC, Chen YT. Type 1 glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med. 2002;2:121–43.

    CAS 
    Article 

    Google Scholar
     

  • Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, et al. Diagnosis and management of glycogen storage disease type 1: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014;16:e11.

    Article 

    Google Scholar
     

  • Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GPA. Guidelines for management of glycogen storage disease type 1—European Study on Glycogen Storage Disease Type 1 (ESGD 1). Eur J Pediatr. 2002;161:S112–9.

    Article 

    Google Scholar
     

  • Visser G, Rake JP, Labrune P, Leonard JV, Moses S, Ullrich K, et al. Consensus guidelines for management of glycogen storage disease type 1b—European Study on Glycogen Storage Disease Type 1. Eur J Pediatr. 2002;161:S120–3.

    PubMed 

    Google Scholar
     

  • Visser G, Rake JP, Fernandes J, Labrune P, Leonard JV, Moses S, 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 1. J Pediatr. 2000;137(2):187–91.

    CAS 
    Article 

    Google Scholar
     

  • Halligan R, White FJ, Schwahn B, Stepien KM, Kamarus Jaman N, McSweeney M, et al. The natural history of glycogen storage disease type Ib in England: a multisite survey. JIMD Rep. 2021;59(1):52–9.

    Article 

    Google Scholar
     

  • Labrune P. Glycogen storage disease type I: indications for liver and/or kidney transplantation. Eur J Pediatr. 2002;161:S53–5.

    Article 

    Google Scholar
     

  • Faivre L, Houssin D, Valayer J, Brouard J, Hadchouel M, Bernard O. Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia. J Inher Metab Dis. 1999;22:723–32.

    CAS 
    Article 

    Google Scholar
     

  • Boers SJB, Visser G, Smit PGPA, Fuchs SA. Liver transplantation in glycogen storage disease type I. Orphanet J Rare Dis. 2014;9:47.

    Article 

    Google Scholar
     

  • Sechi A, Deroma L, Paci S, Lapolla A, Carubbi F, Burlina A, et al. Quality of life in adults with glycogen storage disease type I: results of a multicenter Italian study. In: Zschocke J, Gibson K, Brown G, Morava E, Peters V, editors., et al., JIMD reports, vol. 14. Berlin: Springer; 2013.


    Google Scholar
     

  • Garbade SF, Ederer V, Burgard P, Wendel U, Spiekerkoetter U, Haas D, Grunert SC. Impact of glycogen storage disease type I on adult daily life: a survey. Orphanet J Rare Dis. 2021;16(1):371.

    Article 

    Google Scholar
     

  • Peeks F, Boonstra WF, de Baere L, Caroe C, Casswall T, Cohen D, et al. Research priorities for liver glycogen storage disease: an international priority setting partnership with the James Lind Alliance. J Inherit Metab Dis. 2020;43(2):279–89.

    Article 

    Google Scholar
     

  • Veiga-da-Cunha M, Chevalier N, Stephenne X, Defour JP, Paczia N, Ferster A, et al. Failure to eliminate a phosphorylated glucose analog leads to neutropaenia in patients with G6PT and G6PC3 deficiency. PNAS. 2019;116(4):1241–50.

    CAS 
    Article 

    Google Scholar
     

  • Wortmann SB, Van Hove JLK, Derks TGJ, Chevalier N, Knight V, Koller A, et al. Treating neutropaenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor. Blood. 2020;136(9):1033–43.

    Article 

    Google Scholar
     

  • Rossi A, Miele E, Fecarotta S, Veiga-de-Cunha M, Martinelli M, Mollica C, et al. Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report. Ital J Pediatr. 2021;47:149.

    CAS 
    Article 

    Google Scholar
     

  • Grunert SC, Elling R, Maag B, Wortmann SB, Derks TGJ, Hannibal L, et al. Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib. Orphanet J Rare Dis. 2020;15:218.

    Article 

    Google Scholar
     

  • Mikami M, Arai A, Mizumoto H. Empagliflozin ameliorated neutropenia in a girl with glycogen storage disease Ib. Pediatr Int. 2021;63:1394–6.

    CAS 
    Article 

    Google Scholar
     

  • Vowells SJ, Sekhsaria S, Malech HL, Shalit M, Fleisher TA. Flow cytometric analysis of the granulocyte respiratory burst: a comparison study of fluorescent probes. J Immunol Methods. 1995;13(178):89–97.

    Article 

    Google Scholar
     

  • Stone KD, Feldman HA, Huisman C, Howlett C, Jabara HH, Bonilla FA. Analysis of in vitro lymphocyte proliferation as a screening tool for cellular immunodeficiency. Clin Immunol. 2009;131(1):41–9.

    CAS 
    Article 

    Google Scholar
     

  • Turner D, Hyams J, Markowitz J, Lerer T, Mack DR, Evans J, et al. Appraisal of the pediatric ulcerative colitis activity index (PUCAI). Inflamm Bowel Dis. 2009;15(8):1218–23.

    Article 

    Google Scholar
     

  • Li AM, Thyagu S, Maze D, Scheiber R, Sirrs S, Stockler-Ipsiroglu S, et al. Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukaemia and with shortened telomere length. Pediatr Hematol Oncol. 2018;35:45–51.

    Article 

    Google Scholar
     

  • Ouchi M, Oba K, Aoyama J, Watanabe K, Ishii K, Yano H, et al. Serum uric acid in relation to serum 1,5-anhydroglucitol levels in patients with and without type 2 diabetes mellitus. Clin Biochem. 2013;46:1436–41.

    CAS 
    Article 

    Google Scholar
     

  • Yamanouchi T, Ogata N, Tagaya T, Kawasaki T, Sekino N, Funato H, et al. Clinical usefulness of serum 1,5-anhydroglucitol in monitoring glycaemic control. The Lancet. 1996;347:1514–8.

    CAS 
    Article 

    Google Scholar
     

  • Nguyen TM, Rodriguez LM, Mason KJ, Heptulla RA. Serum 1,5-anhydroglucitol (Glycomark) levels in children with and without type 1 diabetes mellitus. Pediatr Diabetes. 2007;8(4):214–9.

    Article 

    Google Scholar
     

  • Fortuna D, McCloskey LJ, Stickle DF. Model analysis of effect of canagliflozin (Invokana), a sodium-glucose cotransporter 2 inhibitor, to alter plasma 1,5-anhydroglucitol. Clin Chim Acta. 2016;452:138–41.

    CAS 
    Article 

    Google Scholar
     

  • Aoun B, Sanjad S, Degheili JA, Barhoum A, Bassyouni A, Karam PE. Kidney and metabolic phenotypes in glycogen storage disease type-I patients. Front Pediatr. 2020;8:591. https://doi.org/10.3389/fped.2020.00591.

    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

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