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This study suggests that reversible hypopigmentation in homocystinuric patients may result from tyrosinase inhibition by homocyst(e)ine, with in-vitro experiments showing copper sulfate reversing this inhibition.

This study found that enzyme replacement therapy in mice with a severe form of classical homocystinuria improved metabolic patterns and alleviated many clinical symptoms.

This article reviews the need for multicenter clinical trials to establish reference data for ultrasound screening protocols for Down syndrome and reports no new findings.

Hair amino acid levels can indicate metabolic disorders.

Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.