Naslov
"Metabolic myopathies" - research project in Croatia

Autori
Barić, Ivo ; Fumić, Ksenija ; Petković Ramadža, Danijela ; Ćuk, Mario ; Sarnavka, Vladimir ; Vugrek, Oliver.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, ostalo

Izvornik
Metabolic myopathies - research project in Croatia. 14. Pädiatrisches Stoffwechsel-Symposium “Metabolische Myopathien und Update - Ketogene Diaet“, Salzburg / - , 2009

Skup
14. Paediatriches Stoffwechsel - Symposium

Mjesto i datum
Salzburg, Austrija, 19.03.2009. - 21.03.2009

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Nije recenziran

Ključne riječi
metabolic mmyopathies; creatine kinase; S-adenosylhomocisteine hydrolase
(metabolic myopathies; creatine kinase; S-adenosylhomocisteine hydrolase)

Sažetak
Research project of the study of metabolic myopathies in Croatia has been initiated following the discovery of a novel inherited metabolic disease, the S-adenosylhomocisteine hydrolase deficiency, which has subsequently showed association with congenital myopathy in all confirmed cases. In order to study the disease further we decided to screen all patients with unexplained myopathy. The later added goal as been to try to clarify the etiology regardless of SAHH deficiency. For the inclusion criteria, permanent or recurrent of elevation of creatine kinase above 500 IU/L was swlwcted.

Izvorni jezik
Engleski

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