TY - CHAP M1 - Book, Section TI - Glycogen Storage Disease Type II A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - Inborn error of metabolism that results from the deficiency of acid alpha-glucosidase, a lysosomal hydrolase. The three variants are infantile, juvenile, and adult onset. In the classic infantile form (Pompe disease), severe hypertrophic cardiomyopathy, and muscular hypotonia are the cardinal features. In the juvenile and adult forms, involvement of skeletal muscles (progressive muscular hypotonia) and respiratory failure dominates the clinical presentation. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessanesthesiology.mhmedical.com/content.aspx?aid=1164071050 ER -