RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Marciniak, Bruno
A1 Dalens, Bernard J.
SR Print(0)
ID 58078034
T1 Glycogen Storage Disease Type II
T2 Syndromes: Rapid Recognition and Perioperative Implications
YR 2006
FD 2006
PB The McGraw-Hill Companies
PP New York, NY
SN 9780071354554
LK accessanesthesiology.mhmedical.com/content.aspx?aid=58078034
RD 2024/04/16
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),  cardiomyopathy  and  muscular  hypotonia  are  the  cardinal  features.  In  the  juvenile  and  adult  forms,  involvement  of  skeletal  muscles  dominates  the  clinical  presentation.