Clinical and molecular characteristics of Chinese patients with alkaptonuria: 4-year follow-up of a pediatric patient and literature review
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Alkaptonuria (AKU) is a rare autosomal recessive disorder of amino acid metabolism caused by defects in the HGD gene. The diagnosis of AKU is often delayed or missed due to its insidiousness. AKU is far from well-known in China. This study aims to provide an e... ...
