Glycogenosis type II is a lysosomal storage disorder. Characteristic features are heart failure and generalized muscle weakness. The disease is caused by the inherited deficiency of acid α-glucosidase, the enzyme responsible for the degradation of lysosomal glycogen. The aim of the work described in this thesis was to isolate and decipher the genetic code for acid α-glucosidase, and to study the relation between enzyme structure and function

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Erasmus University Rotterdam
H. Galjaard (Hans)
hdl.handle.net/1765/50753
Erasmus MC: University Medical Center Rotterdam

Hoefsloot, L. (1991, March 27). Glycogenosis type II : cloning and characterization of the human lysosomal α-glucosidase gene. Retrieved from http://hdl.handle.net/1765/50753