GLYCOGEN STORAGE DISEASE TYPE IV CASE STUDY. Name Institution Glycogen storage disease type IV case study. Abstract. It is notable to mention that many infants and children face developmental abnormalities due to the presence of glycogen storage disease. Mostly the condition makes it impossible for the body organs to metabolize the glycogen substrates at an optimum rate and process. This condition thus may result in stunting and the development of other nutritional disorders. This report will outline a case study that assessed an 11-month-old boy who had the condition and received appropriate management. Title. A case study of an 11-month-old boy presenting with Glycogen Storage Disease Type IV. Author. Journal of child neurology 27(2) 204-208. Magoulas P. L. & El-Hattab A. W. (2013). Glycogen storage disease type IV. Magoulas P. L. El-Hattab A. W. Roy A. Bali D. S. Finegold M. J. & Craigen W. J. (2012). Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. Human pathology 43(6) 943-951. Patterson M. (2013). Niemann-Pick disease type C. Ravenscroft G. Thompson E. M. Todd E. J. Yau K. S. Kresoje N. Sivadorai P. ... & Fietz M. (2013). Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations. Neuromuscular Disorders 23(2) 165-169. [...]
Write a 500 word case study on type 1 glycogen storage disease. It must be linked to congenital. 8 to 10 case study articles are required to be referenced.