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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.

In this study, a low-methionine diet significantly improved the health and physical traits of cystathionine β-synthase-deficient mice, contrasting with negative effects on mice with partial deficiency.

This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.

This review discusses dietary manipulation strategies in a mouse model of CBS deficiency and reports no new results; the authors emphasize the importance of understanding gene-diet interactions.

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.