乳児後期型家族性黒内障性白痴
WordNet
- of a later stage in the development of a language or literature; used especially of dead languages; "Late Greek"
- later than usual or than expected; "the train arrived late"; "we awoke late"; "the children came late to school"; "notice came so tardily that we almost missed the deadline"; "I belatedly wished her a happy birthday" (同)belatedly, tardily
- at or toward an end or late period or stage of development; "the late phase of feudalism"; "a later symptom of the disease"; "later medical science could have saved the child" (同)later
- of the immediate past or just previous to the present time; "a late development"; "their late quarrel"; "his recent trip to Africa"; "in recent months"; "a recent issue of the journal" (同)recent
- at an advanced age or stage; "she married late"; "undertook the project late in her career"
- being or occurring at an advanced period of time or after a usual or expected time; "late evening"; "late 18th century"; "a late movie"; "took a late flight"; "had a late breakfast"
- having died recently; "her late husband"
- relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
- occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
- of or relating to infants or infancy; "infantile paralysis"
- being or befitting or characteristic of an infant; "infantile games"
- extreme mental retardation (同)amentia
- the syllable naming the sixth (submediant) note of a major or minor scale in solmization (同)lah
PrepTutorEJDIC
- (定刻・通常・予定の時間より)『遅れた』,遅い / (時刻が)『遅い』,遅く始まる,遅くまで続く;夜更けの / (時期が)『遅い』,終りごろの,後期の / 『最近の』,最新の(recent) / 《the~,one's~》『前の』,先の,前任の(former) / 《the~,one's~》『故』…,つい先ごろ死んだ / (定刻などより)『遅れて』,遅く / (時刻が)『遅く』,遅くまで,(特に)夜更けに;(時期が)遅く,終りごろに / 『最近』,近ごろ(recently)
- 家族の,家族特有の / 違伝的な,血統にあらわれる
- 《名詞の前にのみ用いて》幼時の / 子供じみた;子供らしい
- 白痴;〈C〉愚かな言行
- ラ(全音階の第6音)
UpToDate Contents
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English Journal
- [Tay-Sachs disease in non-Jewish infant in Israel].
- Nadim N1.
- Harefuah.Harefuah.2012 Jan;151(1):16-7, 63.
- Tay-Sachs disease, also known as GM2 gangliosidosis or Hexosaminidase A deficiency is an autosomal recessive genetic fatal disorder. The disease is known to appear in East European Ashkenazi Jews, North African Jews, and Quebec French Canadians exclusively, but, with different frequency and type of
- PMID 22670494
- Structural consequences of amino acid substitutions causing Tay-Sachs disease.
- Ohno K1, Saito S, Sugawara K, Sakuraba H.
- Molecular genetics and metabolism.Mol Genet Metab.2008 Aug;94(4):462-8. doi: 10.1016/j.ymgme.2008.04.006. Epub 2008 May 19.
- To determine the structural changes in the alpha-subunit of beta-hexosaminidase due to amino acid substitutions causing Tay-Sachs disease, we built structural models of mutant alpha-subunits resulting from 33 missense mutations (24 infantile and 9 late-onset), and analyzed the influence of each amin
- PMID 18490185
- Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
- Montalvo AL1, Filocamo M, Vlahovicek K, Dardis A, Lualdi S, Corsolini F, Bembi B, Pittis MG.
- Human mutation.Hum Mutat.2005 Sep;26(3):282.
- Tay-Sachs disease (TSD) is a recessively inherited disorder caused by the hexosaminidase A deficiency. We report the molecular characterization performed on 31 Italian patients, 22 with the infantile, acute form of TSD and nine patients with the subacute juvenile form, biochemically classified as B1
- PMID 16088929
Related Links
- JANSKY-BIELSCHOWSKY disease, or late infantile familial amaurotic idiocy, is a progressive neurodegenerative disorder, which leads to death by the end of the first decade. The condition differs from t
- Publication » [A case of the late infantile form of familial amaurotic idiocy].. Article [A case of the late infantile form of familial amaurotic idiocy]. J Prot A Taracha ...
★リンクテーブル★
[★]
- 英
- Bielschowsky-Jansky disease
- 同
- 乳児後期型家族性黒内障性白痴 late infantile familial amaurotic idiocy
[★]
- 英
- late infantile familial amaurotic idiocy
- 関
- ビールショウスキー・ヤンスキー病
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- (比較級later-最上級latest)遅い、遅発の、遅発型の、晩発の、後の、後期の
- 関
- after、afterward、afterwards、anaphase、behind、delayed、following、late-stage、post、posterior、slow、subsequent
[★]
- 関
- baby、infant、newborn infant、puerility、suckling、sucklings
[★]
- 関
- family、family member、household、kindred
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- 関
- idiot、mental deficiency、mental retardation