Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-014-9772-x
Reference52 articles.
1. Annabi B, Hiraiwa H, Mansfield BC et al (1998) The gene for glycogen-storage disease type 1b maps to chromosome 11q23. Am J Hum Genet 62(2):400–405
2. Banka S, Newman WG (2013) A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. Orphanet J Rare Dis 8:84
3. Boers SJ, Visser G, Smit PG, Fuchs SA (2014) Liver transplantation in glycogen storage disease type I. Orphanet J Rare Dis 9(1):47
4. Boztug K, Appaswamy G, Ashikov A et al (2009) A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 360(1):32–43
5. Chen LY, Shieh JJ, Lin B et al (2003) Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter. Hum Mol Genet 12(19):2547–2558
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