Brivet M, Moatti N, Lemonnier A
Ann Biol Clin (Paris). 1979;37(5):259-70.
The authors define the main stages of the biochemical study of hereditary abnormalities of galactose metabolism. They review laboratory examinations for detection, enzyme examinations which provide the diagnostic proof, further examinations which permit one to follow the course and efficacy of a galactose-free diet, the demonstration of genetic variants, the technics of antenatal diagnosis and routine neonatal detection.
作者们界定了半乳糖代谢遗传性异常生化研究的主要阶段。他们回顾了用于检测的实验室检查、提供诊断依据的酶学检查、用于跟踪无半乳糖饮食进程及效果的进一步检查、遗传变异的证明、产前诊断技术和常规新生儿检测技术。
