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The document outlines a course on inherited metabolic disorders, detailing learning objectives related to classification, newborn screening, and specific conditions like phenylketonuria and cystic fibrosis. It emphasizes the importance of early detection through newborn screening in Germany and provides information on various metabolic disorders, their pathophysiology, diagnosis, and treatment options. Additionally, it includes a classification system for inborn errors of metabolism and discusses laboratory

Author

miriamgonzper

Language

EN