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Clinical Genetics and Bioinformatics
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Check the correct statement about newborn screening (NBS) for inherited metabolic diseases:
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Check the correct answer about the principles of dietary treatment of phenylketonuria:
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What is characteristic of mucopolysaccharidoses:
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Common indicators of acute-onset IEM:
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Check the incorrect statement about maternal phenylketonuria syndrome:
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If an increased concentration of phenylalanine is detected during newborn screening:
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In mucopolysaccharidosis, the body accumulates:
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You suspect mucopolysaccharidosis in the patient. Which biochemical genetic tests will you order?
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What happens during phenylketonuria to cause brain damage?
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What first-line essential basic laboratory tests would you order for an acutely ill neonate with suspected inherited metabolic disease?
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