单词 | mucopolysaccharidosis |
释义 | mucopolysaccharidosisn. Pathology. Any of a group of inherited metabolic disorders in which mucopolysaccharides accumulate in various tissues, often leading to skeletal abnormalities, mental retardation, and reduced life expectancy. ΘΚΠ the world > health and disease > ill health > a disease > congenital or hereditary syndromes > [noun] amyelia1865 amelia1872 congenital myotonia1886 myotonia congenita1887 Thomsen's disease1890 von Recklinghausen's disease1899 pseudoxanthoma1900 Werdnig–Hoffmann1903 myotonia atrophica1908 Fröhlich1909 Milroy's disease1909 Lindau disease1928 Steinert's disease1932 von Hippel–Lindau disease1932 Werner's syndrome1934 Sturge–Weber syndrome1935 gargoylism1936 Morgagni's syndrome1936 Hurler's disease1937 von Willebrand1941 Turner1942 autism1944 hypophosphatasia1948 Klinefelter1950 mucopolysaccharidosis1952 progeria1957 Pendred1960 Down's syndrome1961 Patau's syndrome1961 Marinesco–Sjögren syndrome1962 cri du chat syndrome1964 Prader–Willi syndrome1964 Noonan syndrome1965 Lesch-Nyhan syndrome1966 Wernicke–Korsakoff1966 Down1967 mannosidosis1969 mucolipidosis1970 Asperger's syndrome1971 Angelman syndrome1972 adrenoleukodystrophy1973 SCID1973 severe combined immune deficiency1973 Miller–Dieker syndrome1980 Asperger1988 Asperger's disorder1994 1952 G. Brante in Scand. Jrnl. Clin. & Lab. Investig. 4 43 (title) Gargoylism—a mucopolysaccharidosis. 1964 Jrnl. Bone & Joint Surg. 46A 743 A mucopolysaccharidosis such as Hurler's disease. 1989 Encycl. Brit. XXVIII. 315/2 The mucopolysaccharidoses include six or more separate varieties of a disorder that, in varying degrees, affects the skeleton, brain, eyes, heart and liver. 1996 Guardian 11 June ii. 15/1 Christine..wrote to 100 siblings of children with mucopolysaccharidosis diseases. 2002 Drugs 62 733 Bone marrow transplantation continues to be effective in Gaucher disease, in some forms of mucopolysaccharidosis and in mild forms of Krabbé disease. This is a new entry (OED Third Edition, March 2003; most recently modified version published online March 2022). < n.1952 |
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