Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Lignende værker

• Neuromuscular forms of glycogen branching enzyme deficiency
  af: Bruno, C, et al.
  Udgivet: (2007)
• A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
  af: Choi, So Yoon, et al.
  Udgivet: (2018)
• Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
  af: Shen, J, et al.
  Udgivet: (1996)
• Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.
  af: Brown, B I, et al.
  Udgivet: (1989)
• Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?
  af: Schene, Imre F., et al.
  Udgivet: (2018)