Original paper
Long‐term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria
Abstract
Classical homocystinuria (HCU) is an inborn error of metabolism caused by loss of cystathionine β-synthase (CBS) activity with the concomitant buildup of homocysteine. In knockout (KO) mice, a mouse model of HCU, complete lack of CBS is neonatally lethal. Administration of OT-58, an enzyme therapy for HCU, during the first 5 weeks of life rescued KO mice survival by preventing liver disease. Here, we studied the impact of a long-term...
Paper Details
Title
Long‐term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria
Published Date
Jul 15, 2020
Journal
Volume
41
Issue
9
Pages
1662 - 1670
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Notes
History