Pediatrics & Neonatology
Volume 50, Issue 3 , Pages 125-128 , June 2009

Glycogen Storage Disease Type Ib: The First Case in Taiwan

  • Hui-Ju Hsiao

      Affiliations

    • Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • ,
  • Hsiu-Hao Chang

      Affiliations

    • Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • ,
  • Wuh-Liang Hwu

      Affiliations

    • Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • ,
  • Ching-Wan Lam

      Affiliations

    • Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong, China
    • ,
  • Ni-Chung Lee

      Affiliations

    • Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • ,
  • Yin-Hsiu Chien

      Affiliations

    • Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • Corresponding Author InformationCorresponding author. Department of Medical Genetics, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei 100, Taiwan

Received 18 August 2008 ,Revised 10 November 2008 ,Accepted 17 December 2008.

References 

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  2. Lee PJ , Dixon MA , Leonard JV . Uncooked cornstarch: efficacy in type I glycogenosis . Arch Dis Child . 1996;74:546–547
  3. Matern D , Starzl TE , Arnaout W , et al.   Liver transplantation for glycogen storage disease types I, III, and IV . Eur J Pediatr . 1999;158(Suppl 2):S43–S48
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  5. 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
  6. Visser G , Rake JP , Labrune P , 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(Suppl 1):S120–S123
  7. Chiang SC , Lee YM , Chang MH , Wang TR , Ko TM , Hwu WL . Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia . J Hum Genet . 2000;45:197–199
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  10. Veiga-da-Cunha M , Gerin I , Chen YT , et al.   The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a . Eur J Hum Genet . 1999;7:717–723
  11. Visser G , Rake JP , Labrune P , et al.   Granulocyte colonystimulating factor in glycogen storage disease type 1b: results of the European Study on Glycogen Storage Disease Type 1 . Eur J Pediatr . 2002;161(Suppl 1):S83–S87
  12. 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
  13. Schroten H , Roesler J , Breidenbach T , et al.   Granulocyte and granulocyte-macrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type Ib . J Pediatr . 1991;119:748–754
  14. Simmons PS , Smithson WA , Gronert GA , Haymond MW . Acute myelogenous leukemia and malignant hyperthermia in a patient with type 1b glycogen storage disease . J Pediatr . 1984;105:428–431
  15. Donadieu J , Barkaoui M , Bezard F , Bertrand Y , Pondarre C , Guibaud P . Renal carcinoma in a patient with glycogen storage disease Ib receiving long-term granulocyte colony-stimulating factor therapy . J Pediatr Hematol Oncol . 2000;22:188–189
  16. Greene HL , Slonim AE , O'Neill JA , Burr IM . Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease . N Engl J Med . 1976;294:423–425
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  19. Adachi M , Shinkai M , Ohhama Y , et al.   Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation . Eur J Pediatr . 2004;163:202–206
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PII: S1875-9572(09)60048-6

doi: 10.1016/S1875-9572(09)60048-6

Pediatrics & Neonatology
Volume 50, Issue 3 , Pages 125-128 , June 2009

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