engleski

"Metabolic myopathies" - research project in Croatia

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.

metabolic myopathies; creatine kinase; S-adenosylhomocisteine hydrolase

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