单词 | niemann–pick |
释义 | Niemann–Pickn. Medicine. attributive, in the genitive, and (rare) with of. Designating, relating to, or suffering from any of a group of inherited (autosomal recessive) metabolic disorders characterized by the abnormal accumulation of lipid (esp. sphingomyelin) in various tissues of the body (chiefly the brain, liver, and spleen), leading in the most severe form (type A) to retardation of physical and mental growth and death in early childhood.Niemann-Pick disease types A and B are caused by a deficiency of the enzyme acid sphingomyelinase. Niemann-Pick type C represents a defect in intracellular cholesterol movement. 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 1928 Jrnl. Amer. Med. Assoc. 7 Apr. 1166/1 (heading) Niemann–Pick disease... This is the first case of Niemann–Pick's disease to be reported in France. 1928 Arch. Pathol. 6 827 (title) The histogenesis of essential lipoid histiocytosis (Niemann-Pick's disease). 1936 Proc. Royal Soc. Med. 29 585 The three principal types of these lipoidoses are Schüller-Christian's disease, the spleno-hepatomegaly of Gaucher and the spleno-hepatomegaly of Niemann-Pick. 1942 M. M. Wintrobe Clin. Hematol. xii. 521 The cells of Niemann–Pick's disease are round, oval, or polyhedral and are filled with small round hyaline droplets in clusters which give the appearance of foam or a honeycomb. 1973 Sci. Amer. Aug. 90/3 Another disorder involving enlargement of the liver and the spleen and mental retardation, Niemann–Pick disease, was shown..to involve the accumulation of the phospholipid sphingomyelin. 1990 Lab. Investig. 63 385 The levels of the same sugars were elevated in both Gaucher and Niemann-Pick type C patients. This entry has been updated (OED Third Edition, September 2003; most recently modified version published online March 2022). < |
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