- 関
- hereditary disease、single-gene defect
WordNet
- an impairment of health or a condition of abnormal functioning
- pertaining to or referring to origin; "genetic history reconstructs the origins of a literary work"
- of or relating to the science of genetics; "genetic research" (同)genetical
- 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 branch of biology that studies heredity and variation in organisms (同)genetic science
- agile Old World viverrine having a spotted coat and long ringed tail (同)Genetta genetta
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
- 病気にかかった / 病的な,不健全な(morbid)
- 遺伝学
UpToDate Contents
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English Journal
- Hypomyelinating disorders: An MRI approach.
- Barkovich AJ1, Deon S2.
- Neurobiology of disease.Neurobiol Dis.2016 Mar;87:50-8. doi: 10.1016/j.nbd.2015.10.015. Epub 2015 Oct 22.
- In recent years, the concept of hypomyelinating disorders has been proposed as a group of disorders with varying systemic manifestations that are identified by MR findings of absence or near absence of the T2 hypointensity that develops in white matter as a result of myelination. Initially proposed
- PMID 26477299
- The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders.
- Houten SM1, Violante S1, Ventura FV2,3, Wanders RJ4,5.
- Annual review of physiology.Annu Rev Physiol.2016 Feb 10;78:23-44. doi: 10.1146/annurev-physiol-021115-105045. Epub 2015 Oct 14.
- Mitochondrial fatty acid β-oxidation (FAO) is the major pathway for the degradation of fatty acids and is essential for maintaining energy homeostasis in the human body. Fatty acids are a crucial energy source in the postabsorptive and fasted states when glucose supply is limiting. But even when gl
- PMID 26474213
- A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.
- Liu H1, Tan D1, Han L1, Ye J1, Qiu W1, Gu X1, Zhang H1.
- American journal of medical genetics. Part A.Am J Med Genet A.2016 Feb 9. doi: 10.1002/ajmg.a.37590. [Epub ahead of print]
- Malonyl-CoA decarboxylase deficiency is an extremely rare autosomal recessive inborn error of fatty acid metabolism. It usually follows a severe disease course and presents poor prognosis without treatment. Here, we report an affected female juvenile with a mild clinical and biochemical phenotype wh
- PMID 26858006
Japanese Journal
- Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults
- KOHLSCHUTTER Alfried,BLEY Annette,BROCKMANN Knut,GARTNER Jutta,KRAGELOH-MANN Ingeborg,ROLFS Arndt,SCHOLS Ludger
- Brain & development 32(2), 82-89, 2010-02-01
- NAID 10027212606
- 先天代謝異常症の遺伝子診断―新生児マススクリーニング陽性例の早期診断への応用―:―新生児マススクリーニング陽性例の早期診断への応用―
- 長尾 雅悦
- 医療 62(2), 69-75, 2008
- 新生児マススクリーニングは知的障害の予防に大きな成果をあげてきたが, 対象疾患の種類や頻度が増加し陽性例を早期に診断する体制が求められている. そこで先天代謝異常症4疾患(フェニルケトン尿症, ホモシスチン尿症, メープルシロップ尿症, ガラクトース血症)の精査症例を臨床応用の進歩著しい遺伝子検査を用いて確定診断を行った. 札幌市および北海道の過去5年間(平成14-18年度)の受診者数は約45,0 …
- NAID 130004316816
- 武田 英二
- 日本栄養・食糧学会誌 : Nippon eiyo shokuryo gakkaishi = Journal of Japanese Society of Nutrition and Food Science 58(1), 23-28, 2005-02-01
- 30年間に, 先天性代謝異常症の診療研究, カルシウム・リン・ビタミンD代謝異常の診療研究および慢性肝疾患の臨床栄養管理について研究を行った。先天性代謝異常症では, 100%発症する疾患に対して食事療法は発症の予防や治療に有効であることを確認した。カルシウム・リン・ビタミンD研究では, カルシウムの必要量は遺伝因子によって異なることから, 個人の遺伝的背景を理解したうえで積極的に骨粗鬆症を予防する …
- NAID 10020369949
Related Links
- 1: Genetic Diseases, Inborn Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may ...
- genetic disorder n. A pathological condition caused by an absent or defective gene or by a chromosomal aberration. Also called hereditary disease. Thesaurus Antonyms Related Words Synonyms Legend: Switch to new thesaurus
Related Pictures
★リンクテーブル★
[★]
- 関
- genetic disease、hereditary disorder、inborn genetic disease、single-gene defect
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単一遺伝子欠陥
- 関
- hereditary disease、inborn genetic disease
[★]
- 英
- inborn genetic disease
- 関
- 遺伝病、単一遺伝子欠陥
[★]
- 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
[★]
- 関
- gene、genetically、heritable、heritably
[★]
- 関
- a priori、congenital、congenitally
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- 関
- Viverridae