Titlebook: Inborn Errors of Metabolism in Humans; Monograph based upon Forrester Cockburn,Richard Gitzelmann Conference proceedings 1982 The Society f

消息靈通

Inborn errors of purine metabolismrs, each of them individually uncommon, has pointed out the ways in which molecular expression of gene action takes place in man. It has given us new understanding of mechanisms of human variation. It has pioneered in the field of prenatal diagnosis and has permitted new approaches to questions of p

LIMN

agenda

Homocystinuria: clinical and biochemical heterogeneitynded to the inactivity of a specific enzyme in the intermediary metabolism of a substance. As our knowledge of these hereditary disorders continued to expand, it became obvious that we must modify these earlier views. It is now common experience among the inborn errors of metabolism that similar phe

令人發(fā)膩

Hereditary defects of steroid biosynthesisr subsequent synthesis also occur in the placenta, in the liver and in other tissues. Several hereditary enzyme defects are known. Many more are theoretically possible, but have not yet been described. Best known are those of the adrenal steroids which cause adrenal insufficiency and the adrenogenit

兩棲動(dòng)物

貧困

Recent studies on the maturation of lysosomal enzymes in body fluids and sometimes in microsomes. Recent work has shown that the fine structure of these hydrolases determines their location, and conversely, that the location and history of the hydrolases affects their structure. Because acid hydrolases are glycoproteins, the structural variations may

Kaleidoscope

Enzyme substitution by fibroblast transplantationr because an enzyme which controls a single metabolic step is entirely absent or has a greatly reduced activity. More than 330 such disorders have now been described., more than 30 of which are lysosomal storage diseases.

復(fù)習(xí)

gregarious

Throttle

Mutations in mice affecting brain development and their correlations with human diseases multiplication and myelination, outgrowth of dendrites and axons, and establishment of neuronal connections occur. Mice appear to be particu- larly useful for studying hereditary inborn errors of brain metabolism and differentiation. In mice, these processes occur postnatally during a short span of