Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment
J Inherit Metab Dis. 2025 Jan;48(1):e12844. doi: 10.1002/jimd.12844. ABSTRACT Cystathionine β-synthase (CBS) deficiency (classical homocystinuria) has a wide range of severity. Mildly affected patients typically …