Brady R O
Birth Defects Orig Artic Ser. 1971 Feb;7(1):33-6.
The nature of the metabolic defects in all of the major lipid storage diseases has been established within the past four years. This infromation has come primarily from extensive enzymologic studies in human tissues using labeled complex lipids as substrates. A brief description is presented of the background and experiments which led to the identification of the biochemical lesion in Gaucher's disease, Niemann-Pick disease, Fabry's disease, and Tay-Sachs disease.
在过去四年里，所有主要脂质贮积病的代谢缺陷本质已被确定。这些信息主要来自使用标记复合脂质作为底物对人体组织进行的广泛酶学研究。本文简要介绍了导致戈谢病、尼曼-皮克病、法布里病和泰-萨克斯病生化损伤鉴定的背景和实验。
