CareLit · DOI-Nachweis · Klinische Neurophysiologie
Late-onset pompe disease: Case report of a patient with an uncommon mutation and observational clinical trial as to response to enzyme replacemant therapy (ERT) with alglucosidase alfa over a 12-month-period
DOI 10.1055/s-0030-1250913
Bibliografische Angaben
Nachweis in CareLit
Autor:innenN Strigl-Pill
ZeitschriftKlinische Neurophysiologie
Ausgabe03/2010
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Late-onset glycogen storage disease type 2 (GSD2)/Pompe disease is a progressive multi-system disease evoked by a deficiency of lysosomal acid alpha-glucosidase (GAA) activity. GSD2 is characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional disability and reduced life span. Since 2006 alglucosidase alfa has been licensed as a treatment in all types of GSD2/Pompe disease. We her…
Zitieren
Zitierempfehlung
N Strigl-Pill (2010) Late-onset pompe disease: Case report of a patient with an uncommon mutation and observational clinical trial as to response to enzyme replacemant therapy (ERT) with alglucosidase alfa over a 12-month-period. Klinische Neurophysiologie (03). https://doi.org/10.1055/s-0030-1250913
Mit CareLit weiterarbeiten