Have a personal or library account? Click to login
A novel mutation in a newborn baby leading to glycogen storage disease type Ia Cover

A novel mutation in a newborn baby leading to glycogen storage disease type Ia

By: S Dorum and  O Gorukmez  
Open Access
|Dec 2018

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.
Language: English
Page range: 55 - 57
Published on: Dec 31, 2018
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2018 S Dorum, O Gorukmez, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.