单词 | tay-sachs |
释义 | Tay-Sachsn. Pathology. Used attributively and absol. with reference to a fatal inherited metabolic disorder in which an enzyme deficiency causes accumulation of a ganglioside in the brain and elsewhere, resulting in idiocy and death in childhood (described by Tay and Sachs in 1881 and 1887 respectively). ΘΚΠ the world > health and disease > ill health > a disease > disorders of internal organs > metabolic disorders > [noun] > other metabolic disorders xanthomatosis1900 Tay-Sachs1907 ketosis1917 protein shock1917 hyperinsulinism1924 Niemann–Pick1928 tyrosinosis1932 von Gierke's disease1933 phenylketonuria1935 cystic fibrosis1938 mucoviscidosis1945 cystinosis1949 oxalosis1952 McArdle1957 orotic aciduria1959 PKU1961 sphingolipidosis1962 Reye's syndrome1965 Menkes1969 1907 Index Medicus V. 841/1 Hereditary infantile cerebellar ataxy and the Tay-Sachs disease. 1937 I. H. Page Chem. of Brain iii. 93 (heading) Tay-Sachs amaurotic familial idiocy. 1974 Sci. Amer. Mar. 63/2 (advt.) A Tay-Sachs child develops normally for his first six months. Then, as excessive fatty deposits accumulate in his brain cells, he regresses... Usually before his fifth birthday, he dies. 1975 Nature 8 May 101/3 Israel's best known ethnic malady is Tay-Sachs Disease, a fatal genetic disorder limited almost entirely to infants whose forebears came here from certain parts of East Europe. This entry has not yet been fully updated (first published 1986; most recently modified version published online September 2018). < n.1907 |
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