WordNet
- an impairment of health or a condition of abnormal functioning
- having or involving or consisting of more than one part or entity or individual; "multiple birth"; "multiple ownership"; "made multiple copies of the speech"; "his multiple achievements in public life"; "her multiple personalities"; "a pineapple is a multiple fruit"
- the product of a quantity by an integer; "36 is a multiple of 9"
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
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
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
- 多数の部分(要素)から成る,複合の,複式の / 倍数
- 病気にかかった / 病的な,不健全な(morbid)
UpToDate Contents
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- 1. 先天性代謝異常症の特徴的な症状 presenting features of inborn errors of metabolism
- 2. 先天性代謝異常症の分類の概要 overview of the classification of inborn errors of metabolism
- 3. 小児における先天性代謝異常の評価の概要 overview of the evaluation of inborn errors of metabolism in children
- 4. シェーグレン・ラルソン症候群 sjogren larsson syndrome
- 5. 小児における口腔軟部組織病変 soft tissue lesions of the oral cavity in children
English Journal
- Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
- da Silva EM1, Strufaldi MW, Andriolo RB, Silva LA.
- The Cochrane database of systematic reviews.Cochrane Database Syst Rev.2014 Jan 8;1:CD008185. doi: 10.1002/14651858.CD008185.pub3.
- BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. The glycosaminoglycans accumulate within tissues affecting multiple o
- PMID 24399699
- [Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].
- Meng Y1, Zhang WM, Shi HP, Yao FX, Qiu ZQ, Yang T, Zhao SM, Huang SZ2.
- Zhonghua er ke za zhi. Chinese journal of pediatrics.Zhonghua Er Ke Za Zhi.2013 Nov;51(11):836-41.
- OBJECTIVE: Multiple sulfatase deficiency is a rare autosomal recessively inherited lysosomal storage disorder characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The aim of this study was to explore the clinical manifestations, enzyme activities and SUMF1 gene mutation
- PMID 24484558
- Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.
- Schlotawa L1, Radhakrishnan K, Baumgartner M, Schmid R, Schmidt B, Dierks T, Gärtner J.
- European journal of human genetics : EJHG.Eur J Hum Genet.2013 Sep;21(9):1020-3. doi: 10.1038/ejhg.2012.291. Epub 2013 Jan 16.
- Multiple sulfatase deficiency (MSD) is a rare inborn error of metabolism affecting posttranslational activation of sulfatases by the formylglycine generating enzyme (FGE). Due to mutations in the encoding SUMF1 gene, FGE's catalytic capacity is impaired resulting in reduced cellular sulfatase activi
- PMID 23321616
Related Links
- FAQ • Multiple Sulfatase Deficiency Disease. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is ...
- Multiple sulfatase deficiency or Austin's disease is a rare inherited lysosomal disorder (See: Lysosomal disorders) that primarily affects the brain, skin, and skeleton. This condition can be broken into three subtypes based on the age ...
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★リンクテーブル★
| リンク元 | 「多種スルファターゼ欠損症候群」 |
| 関連記事 | 「disease」「deficiency」「sulfatase」「multiple」 |
「多種スルファターゼ欠損症候群」
「disease」
- n.
- 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.
- 注意
「deficiency」
- n.
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
「sulfatase」
「multiple」
- n.
- 倍数
- adj.