Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: Report of three new mutations

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

Marju Orho, N. U. Bosshard, Neil R.M. Buist et al. · Journal of Clinical Investigation · 1998 · 131 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Infantile Hypoglycaemia due to Inherited Deficiency of Glycogen Synthetase in Liver

Giavonni Lewis, J. Spencer‐Peet, Katrina Stewart · Archives of Disease in Childhood · 1963 · 76 citations · Full text

Life Sciences, Endocrinology, Pediatrics +17

Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl.

A Aynsley‐Green, D. H. Williamson, R Gitzelmann · Archives of Disease in Childhood · 1977 · 71 citations · Full text

Life Sciences, Pediatrics, Physiology +17

Liver glycogen synthase deficiency: A rarely diagnosed entity

R Gitzelmann, M. A. Spycher, Gerhard Feil et al. · European Journal of Pediatrics · 1996 · 66 citations

Medicine, Biochemistry, Internal Medicine +13

Changes of glucose transporters in the cerebral adaptation to hypoglycemia

Dae Ho Lee, Min Young Chung, Jong Un Lee et al. · Diabetes Research and Clinical Practice · 2000 · 44 citations

Medicine, Neurobiology, Neuroscience +14