单词 | mucolipidosis |
释义 | mucolipidosisn. Pathology. Any of various hereditary diseases affecting metabolism in which the accumulation of mucolipids in tissue produces clinical abnormalities similar to those of the mucopolysaccharidoses. Also with following numeral, designating a particular type of this disease. 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 1970 J. W. Spranger & H. R. Wiedemann in Humangenetik 9 113 Several diseases have been identified which are now classified as a separate group of thesaurismoses: the mucolipidoses. 1977 Clin. Chim. Acta 74 92 Mucolipidoses are diseases with the clinical and histochemical characteristics of both sphingolipidoses and mucopolysaccharidoses. 1989 Lancet 22 Apr. 877/1 Sialidosis (mucolipidosis I). 1996 Amer. Jrnl. Med. Genetics 65 209 Plasma hyaluronidase activity, an endoglycosidase of presumably lysosomal origin, is not increased in the plasma from individuals with mucolipidoses II and III, unlike most lysosomal enzymes. This is a new entry (OED Third Edition, March 2003; most recently modified version published online March 2022). < n.1970 |
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