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单词 mannosidosis
释义

mannosidosisn.

Brit. /maˌnəʊsɪˈdəʊsɪs/, U.S. /mæˌnoʊsəˈdoʊsəs/
Origin: Formed within English, by derivation. Etymons: mannoside n., -osis suffix.
Etymology: < mannoside n. + -osis suffix (see quot. 1969).
Medicine.
Either of two inherited (autosomal recessive) metabolic storage diseases in humans and certain other mammals, in which deficiency of alpha- or beta-mannosidase causes accumulation of mannose-rich oligosaccharides in the central nervous system and other tissues, resulting in neurological, skeletal, and other abnormalities.
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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
1969 P. Öckerman in Jrnl. Pediatrics 75 365/1 It is suggested that the term mannosidosis be used, thereby referring to the dominance of mannose in the oligosaccharide material stored.
1978 Onderstepoort Jrnl. Vet. Res. 45 245 The clinical symptoms, gross and histopathological, as well as the ultrastructural appearance of a condition in cross-bred Aberdeen Angus calves resembling the inherited lysosomal storage disease, alpha-mannosidosis, are reported.
1981 Jrnl. Biol. Chem. 256 5181 The accumulation of this substance suggests the possibility of a genetic defect in beta-mannosidase in the catabolic pathway for N-linked complex glycopeptides and would be the first indication of a beta-mannosidosis.
1990 Glia 3 220 Central nervous system myelin deficiency is a consistent feature of caprine beta-mannosidosis, an autosomal recessive neurovisceral lysosomal storage disease.
1998 Clin. Chem. 44 2422 We report here the patterns [of oligosaccharides] in urines from patients with Pompe disease, alpha and beta mannosidoses, galacto-sialidosis, and GM1 gangliosidosis.
This is a new entry (OED Third Edition, September 2000; most recently modified version published online March 2022).
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n.1969
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