title: Anaesthetic management of infants with glycogen storage disease type II: a physiological approach.
abstract: Pompe or Glycogen Storage Disease type II (GSD-II) is a genetic disorder affecting both cardiac and skeletal muscle. Historically, patients with the infantile form usually die within the first year of life due to cardiac and respiratory failure. Recently a promising enzyme replacement therapy has resulted in improved clinical outcomes and a resurgence of elective anaesthesia for these patients. Understanding the unique cardiac physiology in patients with GSD-II is essential to providing safe general anaesthesia.
authors.affiliation: Department of Anesthesiology, Duke University Medical Center, Durham, NC 27710, USA. ing00001@mc.duke.edu
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Ing
authors.forename: D Ryan
authors.initials: DR
authors.lastname: Cook
authors.forename: Resai A
authors.initials: RA
authors.lastname: Bengur
authors.forename: Eric A
authors.initials: EA
authors.lastname: Williams
authors.forename: John
authors.initials: J
authors.lastname: Eck
authors.forename: Guy de L
authors.initials: Gde L
authors.lastname: Dear
authors.forename: Allison K
authors.initials: AK
authors.lastname: Ross
authors.forename: Frank H
authors.initials: FH
authors.lastname: Kern
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
mesh_terms: D000768:Anesthesia, General / Q000379:methods*; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy / Q000503:physiopathology; D006321:Heart / Q000503:physiopathology; D006801:Humans; D007223:Infant; D011994:Recombinant Proteins / Q000627:therapeutic use; D000520:alpha-Glucosidases / Q000627:therapeutic use
chemical_list: D011994:Recombinant Proteins; D000520:alpha-Glucosidases