- specific enzyme defect
- 特异性酶缺陷
Medical Chinese dictionary (湘雅医学词典). 2013.
Medical Chinese dictionary (湘雅医学词典). 2013.
Enzyme — A protein (or protein based molecule) that speeds up a chemical reaction in a living organism. An enzyme acts as catalyst for specific chemical reactions, convertingt a specific set of reactants (called substrates) into specific products. Without … Medical dictionary
skin disease — ▪ pathology Introduction any of the diseases or disorders that affect the human skin. They have a wide range of causes. General features Although most diseases affecting the skin originate in the layers of the skin, such abnormalities are… … Universalium
Inborn error of metabolism — A heritable disorder of biochemistry. Examples of inborn errors of metabolism include albinism, cystinuria (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease. These are only a very few… … Medical dictionary
КЕЛЛИ – ЗИГМИЛЛЕРА СИНДРОМ — (описан американскими врачами W. N. Kelley, род. в 1939, и J. E. Seegmiller, род. в 1920, с соавт.) – редкое наследственное заболевание, связанное с частичной недостаточностью гипоксантин гуанин фосфорибозил трансферазы, что приводит к… … Энциклопедический словарь по психологии и педагогике
metabolic disease — ▪ pathology Introduction any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… … Universalium
nutritional disease — Introduction any of the nutrient related diseases and conditions that cause illness in humans. They may include deficiencies or excesses in the diet, obesity and eating disorders, and chronic diseases such as cardiovascular disease,… … Universalium
Adenylate kinase — 3D ribbon/surface model of adenylate kinase in complex with bis(adenosine)teraphosphate (ADP ADP) Identifiers Symbol ADK … Wikipedia
deficiency — An insufficient quantity of some substance (as in dietary d. or hemoglobin d. in marrow aplasia); organization (as in mental d.); activity (as in enzyme d. or reduced oxygen carrying capacity of the blood), etc., of which the amount present is of … Medical dictionary
nutrition, human — Introduction process by which substances in food are transformed into body tissues and provide energy for the full range of physical and mental activities that make up human life. The study of human nutrition is interdisciplinary in… … Universalium
HSD17B4 — Hydroxysteroid (17 beta) dehydrogenase 4, also known as HSD17B4, is a human gene.cite web | title = Entrez Gene: HSD17B4 hydroxysteroid (17 beta) dehydrogenase 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView… … Wikipedia
Tatum, Edward L. — ▪ American biochemist in full Edward Lawrie Tatum born Dec. 14, 1909, Boulder, Colo., U.S. died Nov. 5, 1975, New York, N.Y. American biochemist who helped demonstrate that genes determine the structure of particular enzymes or otherwise … Universalium