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Carnitine synthesis defect and autism With the overall goal to identify exonic copy number variants in the genome of ASD patients, Celestino-Soper and coauthors[42] analyzed 3743 samples for detecting disease-causing copy number variants (CNVs) that are not detected by most techniques used in conventional research and clinical diagnosis laboratories

While most cases are mild, regular thyroid function monitoring is essential for timely diagnosis and management

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