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Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease

Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition · 2019
ClinicalTrials.gov · Datasets · License: Public Domain · 2019
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duchenne-muscular-dystrophy
This is a multicenter prospective non-drug screening study. The working period is 12 months. There is no research product to be followed or used in the study. Demographic data, medical and family histories of the patients included in the study will be collected at the first admission. The following laboratory values of the patients will be collected: * Alanine Transaminase (ALT) * Aspartate Transaminase (AST) * Gamma Glutamyl Transferase (GGT) * Creatine Phosphokinase (CPK) * In addition, physical examination information and Abdominal USG and Liver Biopsy Results, if any, will be collected. Following the above scans, enzyme analysis for late-onset Pompe disease in boys and girls and adolescents with high CPK levels and molecular genetic tests for Duchenne muscular dystrophy in boys and adolescents with high CPK levels will be performed.
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