Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease.
Yanovitch
Tammy L
TL
Duke Eye Center, Duke University Medical Center, Durham, North Carolina, USA.
Casey
Robin
R
Banugaria
Suhrad G
SG
Kishnani
Priya S
PS
D000293:Adolescent; D001763:Blepharoptosis / Q000188:drug therapy* / Q000209:etiology* / Q000503:physiopathology; D018450:Disease Progression; D004305:Dose-Response Relationship, Drug; D056947:Enzyme Replacement Therapy / Q000379:methods* / Q000592:standards; D006003:Glycogen / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000188:drug therapy* / Q000503:physiopathology; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000188:drug therapy / Q000201:enzymology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000187:drug effects / Q000378:metabolism / Q000503:physiopathology; D009801:Oculomotor Muscles / Q000187:drug effects / Q000201:enzymology / Q000503:physiopathology; D011994:Recombinant Proteins / Q000008:administration & dosage; D020127:Recovery of Function / Q000187:drug effects / Q000502:physiology; D016896:Treatment Outcome; D000520:alpha-Glucosidases / Q000008:administration & dosage*
D011994:Recombinant Proteins; D006003:Glycogen; C509951:GAA protein, human; D000520:alpha-Glucosidases