Liječnički vjesnik, Vol. 137 No. 7-8, 2015.
Professional paper
POMPE DISEASE – GUIDELINES FOR DIAGNOSIS AND MANAGEMENT OF ADULT PATIENTS
Ivan Pećin
Diana Muačević-Katanec
Iveta Šimić
Ksenija Fumić
Kristina Potočki
Nediljko Šućur
Željko Reiner
Abstract
These guidelines provide a short summary of recommendations on Pompe disease, how to diagnose this disease, management of adult patients with this disease, follow-up of the patients and recommendations on therapy and genetic testing. Early diagnosis and management of patients with Pompe disease requires a multidisciplinary approach of several different experts. These guidelines were produced by the Division of Metabolic Diseases, Department of Internal Medicine, University Hospital Center Zagreb which is a Referral expert center for rare and metabolic diseases of the Ministry of Health of the Republic of Croatia. They were endorsed by the Croatian Society for Rare Diseases, Croatian Medical Association.These are the first guidelines published in Croatia on diagnosis, treatment and follow-up of Pompe disease.
Keywords
Glycogen storage disease type II – diagnosis, drug therapy; Alpha-glucosidases – therapeutic use; Enzyme replacement therapy; Practice guidelines as topic; Croatia
Hrčak ID:
172710
URI
Publication date:
2.9.2015.
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