请输入您要查询的英文单词:

 

单词 lesch-nyhan
释义

Lesch-Nyhann.

Brit. /lɛʃˈnʌɪhən/, U.S. /ˌlɛʃˈnaɪən/
Origin: From proper names. Etymons: proper name Lesch, Nyhan.
Etymology: < the names of Michael Lesch (1939–2008) and William Leo Nyhan (b. 1926), U.S. physicians, who described the syndrome in 1964 (in Amer. Jrnl. Med. 36 561).
Medicine.
attributive, esp. in Lesch-Nyhan syndrome. Designating an inherited disorder of purine metabolism characterized by abnormally high levels of uric acid, compulsive biting of the lips and fingers, mental disability, and involuntary muscular movements. Also: designating patients affected by this syndrome.
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
1966 W. B. Reed & C. H. Fish in Arch. Dermatol. 94 195/2 Indications are that this syndrome is probably sex-linked... Since Lesch and Nyhan first described the signs and symptoms as an entity, the condition should be called the Lesch-Nyhan syndrome .
1969 Sci. News Let. 11 Oct. 327 Skin cells from patients with a genetic defect known as the Lesch-Nyhan syndrome lack an enzyme essential for incorporation of purine bases into new nucleic acids.
1975 Amer. Jrnl. Human Genetics 27 219 The mothers of Lesch-Nyhan cases will be either heterozygous (+/−) or homozygous normal (+/+). In the latter case the Lesch-Nyhan patient would have received a complete mutation from his mother.
1998 J. C. Harris Developmental Neuropsychiatry II. xi. 313/1 The self-injury that occurs in Lesch-Nyhan disease is a compulsive behavior.
2007 New Yorker 13 Aug. 32/1 A child born with Lesch-Nyhan syndrome seems normal at first, but by the age of three months he has become a so-called floppy baby.
This entry has been updated (OED Third Edition, June 2018; most recently modified version published online March 2022).
<
n.1966
随便看

 

英语词典包含1132095条英英释义在线翻译词条,基本涵盖了全部常用单词的英英翻译及用法,是英语学习的有利工具。

 

Copyright © 2004-2022 Newdu.com All Rights Reserved
更新时间:2024/12/23 2:25:40