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个人简介
Jan, considered by many as the “Father of Homocystinuria”, dedicated his life's work to the understanding, diagnosis and treatment of Homocystinuria (HCU) and Proprionic Acidemia (PA). Since the 1960's, Jan has authored and co-authored over 160 publications regarding HCU and PA. Jan's career highlights include building a database of all the genetic mutations associated with Homocystinuria, as well as being the inventor for the OT-58 product (a pegylated version of the CBS enzyme) that is in human trials for Classical Homocystinuria patients.
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论文共 162 篇作者统计合作学者相似作者
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eLSpp.1-12, (2018)
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