A NOVEL MUTATION IN A NEWBORN BABY LEADING TO GLYCOGEN STORAGE DISEASE TYPE IA
Dorum S, Gorukmez O
*Corresponding Author: Sevil Dorum, M.D., Department of Pediatrics, Division of Metabolism, Bursa Yüksek İhtisas Training and Research Hospital, Emniyet Street 35, 16310, Yıldırım, Bursa, Turkey. Tel.: +90+505-258-3766. Fax: +90-224-294-4000. E-mail: sevildorum@gmail.com
page: 55

REFERENCES

1. Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, 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; 16(11): e1. 2. Dambska M, Labrador EB, Kuo CL, Weinstein DA. Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control. Pediatr Diabetes. 2017; 18(5): 327-331. 3. Sun A. Glucose-6-phosphatase deficiency (glycogen storage disease I, von Gierke disease). Hahn S, Editor. Waltham, MA, USA: UpToDate Inc. (https://www. upto date.com; accessed February 16, 2018. 4. Aydemir Y, Gurakan F, Saltik Temizel IN, Demir H, Karli Oguz K, et al. Evaluation of central nervous system in patients with glycogen storage disease type 1a. Turkish J Pediatr. 2016; 58(1): 12-18. 5. Hufton BR, Wharton BA. Glycogen storage disease (type 1) presenting in the neonatal period. Arch Dis Child. 1982; 57(4): 309-319. 6. Eminoğlu FT, Tümer L, Okur I, Ezgü FS, Hasanoğlu A. Clinical course and outcome of glycogen-storage disease type 1a and type 1b. Turk Arch Ped. 2013; 48(2): 117-122. 7. Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GPK. Guidelines for management of glycogen storage disease type I European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr. 2002; 161(Suppl 1): 112-119.



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