Successful pregnancy outcome in patient with Pompe disease despite discontinuation of enzyme replacement therapy

Background: Pompe disease (PD), is an autosomal recessive metabolic disorder caused by mutations in the acid alpha-glucosidase (GAA) gene, resulting in a deficiency of the same enzyme and glycogen buildup in tissues. Late onset PD (LOPD) is characterized by muscle illness, accompanied by diaphragmat...

Volledige beschrijving

Bibliografische gegevens

Hoofdauteurs:	Dunja Leskovar Lemešić, Dražen Perica, Gordan Zlopaša, Biserka Knezić Frković, Nediljko Šućur, Željko Reiner, Ivan Pećin
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	SMC MEDIA SRL 2025-05-01
Reeks:	European Journal of Case Reports in Internal Medicine
Onderwerpen:	late onset pompe disease pregnancy enzyme replacement therapy muscle weakness
Online toegang:	https://www.ejcrim.com/index.php/EJCRIM/article/view/5456
Tags:	Voeg label toe Geen labels, Wees de eerste die dit record labelt!