バッテン・メイヨウ病
WordNet
- an impairment of health or a condition of abnormal functioning
- secure with battens; "batten down a ships hatches"
- a strip fixed to something to hold it firm
- furnish with battens; "batten ships" (同)batten down, secure
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
- the month following April and preceding June
PrepTutorEJDIC
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- (板の継ぎ目をふさぐ)小割り,小角材;(船舶の防水用の)当て木 / (特に,防水のため)(船の甲板昇降口など)‘に'当て木をする《+『down』+『名』,+『名』+『down』》
- 《文》〈牛などが〉肥える / たらふく食う;(特に他人の金で)肥え太る,ぜいたくに暮らす《+『on』(『upon』)》 / (機会・口実などを)とらえる《+『on』+『名』》
- 病気にかかった / 病的な,不健全な(morbid)
- 『5月』
UpToDate Contents
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English Journal
- Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.
- Travaglini L1, Aiello C1, Alesi V2, Loddo S2, Novelli A2, Tozzi G1, Bertini E1, Leuzzi V3, Brancati F4.
- Brain & development.Brain Dev.2017 Feb;39(2):182-183. doi: 10.1016/j.braindev.2016.08.010. Epub 2016 Sep 14.
- PMID 27639779
- Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.
- Hirz M1, Drögemüller M2, Schänzer A3, Jagannathan V2, Dietschi E2, Goebel HH4, Hecht W5, Laubner S6, Schmidt MJ6, Steffen F7, Hilbe M8, Köhler K5, Drögemüller C2, Herden C5.
- Molecular genetics and metabolism.Mol Genet Metab.2016 Dec 19. pii: S1096-7192(16)30308-0. doi: 10.1016/j.ymgme.2016.12.007. [Epub ahead of print]
- Neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage diseases that have been described in a variety of dog breeds, where they are caused by different mutations in different genes. However, the causative gene defect in the breed Alpenländische Dachsbracke remained unknown so far. He
- PMID 28024876
- Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.
- Sleat DE1, Gedvilaite E2, Zhang Y3, Lobel P4, Xing J5.
- Gene.Gene.2016 Nov 30;593(2):284-91. doi: 10.1016/j.gene.2016.08.031. Epub 2016 Aug 20.
- The neuronal ceroid lipofuscinoses (NCLs) are a group of fatal, mostly recessive neurodegenerative lysosomal storage diseases. While clinically similar, they are genetically distinct and result from mutations in at least twelve different genes. Estimates of NCL incidence range from 0.6 to 14 per 100
- PMID 27553520
Related Links
- Batten-Mayou disease information including symptoms, causes, diseases, symptoms, treatments, and other medical and health issues. ... Introduction: Batten-Mayou disease Description of Batten-Mayou disease Batten-Mayou ...
- Batten Disease information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke. ... What is Batten disease? Batten disease is a fatal, inherited disorder of the nervous system that ...
★リンクテーブル★
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- 英
- Spielmeyer-Vogt disease
- 同
- バッテン・メイヨウ病 Batten-Mayou disease、若年型家族性黒内障白痴 juvenile type of familial amaurotic idiocy
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- 英
- Batten-Mayou disease
- 関
- スピールマイヤー・フォークト病
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- 疾患:illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
- 特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
- something that is very wrong with people's attitudes, way of life or with society.
- 関
- ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness
- disease ≠ illness ≠ disorder