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This study observed that mice with a whole-body deficiency of Cystathionine-β-synthase developed severe hyperhomocysteinemia and related mild symptoms without increased mortality, indicating HHCy may not directly cause end organ damage.

This study found that keratin damage in mammals and birds can result from N-homocysteinylation, reducing keratin solubility and indicating significant protein modification through genetic or nutritional disruptions in homocysteine metabolism.

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

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