[POMPE DISEASE - GUIDELINES FOR DIAGNOSIS AND MANAGEMENT OF ADULT PATIENTS].
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.
Ivan
I
Pećin
Diana
D
Muačević-Katanec
Iveta
I
Šimić
Ksenija
K
Fumić
Kristina
K
Potočki
Nediljko
N
Šućur
Željko
Ž
Reiner
D000328:Adult; D017523:Croatia; D056947:Enzyme Replacement Therapy; D005820:Genetic Testing; D005087:Glucan 1,4-alpha-Glucosidase / Q000627:therapeutic use; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans
D005087:Glucan 1,4-alpha-Glucosidase