Cystathionine ??Synthase (CBS) Deficiency: Genetics

Cystathionine β‐synthase (CBS) catalyses condensation of homocysteine and serine to cystathionine, and by alternative reactions also synthesis of hydrogen sulfide
Tags: Entertainment homocysteine; homocystinuria; inborn errors of metabolism; cystathionine β‐synthase; mutations; pathogenesis; misfolding; chaperones; mouse models; newborn screening; enzyme replacement therapy
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