late infantile familial amaurotic idiocy

乳児後期型家族性黒内障性白痴

WordNet

1. of a later stage in the development of a language or literature; used especially of dead languages; "Late Greek"
2. 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
3. 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
4. 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
5. at an advanced age or stage; "she married late"; "undertook the project late in her career"
6. 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"
7. having died recently; "her late husband"
8. relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
9. occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
10. of or relating to infants or infancy; "infantile paralysis"
11. being or befitting or characteristic of an infant; "infantile games"
12. extreme mental retardation (同)amentia
13. the syllable naming the sixth (submediant) note of a major or minor scale in solmization (同)lah

PrepTutorEJDIC

1. (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)
2. 家族の,家族特有の / 違伝的な,血統にあらわれる
3. 《名詞の前にのみ用いて》幼時の / 子供じみた;子供らしい
4. 白痴;〈C〉愚かな言行
5. ラ(全音階の第6音)

UpToDate Contents

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• 1. 後期早産児 late preterm infants
• 2. 正期産児および後期早産児における非抱合型高ビリルビン血症の治療 treatment of unconjugated hyperbilirubinemia in term and late preterm infants
• 3. 正期産児および後期早産児における敗血症の臨床的特徴、評価、および診断 clinical features evaluation and diagnosis of sepsis in term and late preterm infants
• 4. 正期産児および後期早産児における敗血症のマネージメントおよび転帰 management and outcome of sepsis in term and late preterm infants
• 5. 遺伝性運動失調の概要 overview of the hereditary ataxias

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

• BIELSCHOWSKY, Max - Springer

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

• [A case of the late infantile form of familial amaurotic idiocy ...

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 ...

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★リンクテーブル★

リンク元	「ビールショウスキー・ヤンスキー病」「乳児後期型家族性黒内障性白痴」
関連記事	「late」「infantile」「familial」「idiocy」

「ビールショウスキー・ヤンスキー病」

　　[★]

英

Bielschowsky-Jansky disease

同

乳児後期型家族性黒内障性白痴 late infantile familial amaurotic idiocy

「乳児後期型家族性黒内障性白痴」

　　[★]

英

late infantile familial amaurotic idiocy

関

ビールショウスキー・ヤンスキー病

「late」

　　[★]

• adv.

• (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

　 　 　 　 　 　 　 　

「infantile」

　　[★]

• adj.

• 乳児性の、乳児の、小児性の、小児型の

関

baby、infant、newborn infant、puerility、suckling、sucklings

　 　 　

「familial」

　　[★]

• adj.

• 家族性の、家系性の、家族の

関

family、family member、household、kindred

　 　 　

「idiocy」

　　[★]

• n.

• 白痴

関

idiot、mental deficiency、mental retardation