The remarkable S. Harvey Mudd - A reminiscence

被引:0
|
作者
Levy, Harvey L. [1 ,2 ]
机构
[1] Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA
[2] Harvard Med Sch, Boston, MA USA
关键词
Homocystinuria; Harvey Mudd; Cystathionine beta-synthase; Methionine metabolism; Cobalamin C disorder; METHYLMALONIC ACIDURIA; CYSTATHIONINEMIA; HOMOCYSTINEMIA; DERANGEMENT;
D O I
10.1016/j.ymgme.2016.04.013
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Harvey Mudd was the father of methionine metabolic disorders. Beginning with his identification of the enzyme defect in homocystinuria, he co-discovered cobalamin C disorder as the first known human disorder of vitamin B12 metabolism, thereby extending our concept of homocystinuria as a key feature of related disorders rather than a single disease, and identified new disorders that produce hypermethioninemia. He had no equal in our understanding of how critical methionine metabolism is to human homeostasis. (C) 2016 Elsevier Inc. All rights reserved.
引用
收藏
页码:143 / 144
页数:2
相关论文
共 50 条