Long-term enzyme-replacement therapy (ERT) with alglucosidase alfa: Evolution of two siblings with juvenile late-onset Pompe disease.
Department of Paediatrics, University Hospital Doctor Peset, Valencia, Spain; University of Valencia, Spain. Electronic address: jbretonmar@gmail.com.
J
J
Rafael Bretón Martínez
Department of Paediatrics, University Hospital Doctor Peset, Valencia, Spain.
Andrés Cánovas
AC
Martínez
D002648:Child; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy* / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D035781:Siblings; D000520:alpha-Glucosidases / Q000008:administration & dosage / Q000494:pharmacology*
C509951:GAA protein, human; D000520:alpha-Glucosidases
Enzyme-replacement therapy; Juvenile late-onset Pompe disease; Late-onset Pompe disease; Pompe disease