Glycogen storage disease type II
Definition:
References:
-
[1]. J M H Anneser, et al. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. Neurology. 2005 Jan 25;64(2):368-70. [Content Brief]
[2]. Priya S Kishnani, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006 May;8(5):267-88. [Content Brief]
[3]. Samuel Ignacio Pascual Pascual, et al. Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme. Adv Exp Med Biol. 2009;652:39-46. [Content Brief]
Molarity Calculator
Dilution Calculator
