WordNet
- bring disorder to (同)disarray
- a physical condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; "everyone gets stomach upsets from time to time" (同)upset
- a disturbance of the peace or of public order
- any of several complex proteins that are produced by cells and act as catalysts in specific biochemical reactions
- not arranged in order (同)unordered
PrepTutorEJDIC
- 〈U〉『無秩序』,混乱,乱雑(confusion) / 《しばしば複数形で》(社会的・政治的な)粉争,騒動 / 〈C〉(肉体的・精神的な)不調,異常,障害 / …‘の'秩序を乱す / 〈心身〉‘に'異常を起こさせる
- 酵素
UpToDate Contents
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- 1. ライソゾーム膜蛋白質2欠損症（糖原病IIb型、ダノン病） lysosome associated membrane protein 2 deficiency glycogen storage disease iib danon disease
- 2. 肥大型心筋症の遺伝学 genetics of hypertrophic cardiomyopathy
- 3. 多発血管炎性肉芽腫症を伴う肉芽腫症および関連血管炎の病因 pathogenesis of granulomatosis with polyangiitis and related vasculitides
- 4. グルコースおよびグリコーゲン代謝の遺伝性疾患の概要 overview of inherited disorders of glucose and glycogen metabolism
- 5. ゴーシェ病：病因、臨床症状、および診断 gaucher disease pathogenesis clinical manifestations and diagnosis
English Journal
- Idursulfase enzyme replacement therapy in an adult patient with severe Hunter syndrome having a novel mutation of iduronate-2-sulfatase gene.
- Christianto A, Watanabe H, Nakajima T, Inazu T.SourceDepartment of Pharmacy, College of Pharmaceutical Sciences, Ritsumeikan University, Kusatsu, Shiga 525-8577, Japan.
- Clinica chimica acta; international journal of clinical chemistry.Clin Chim Acta.2013 Aug 23;423:66-8. doi: 10.1016/j.cca.2013.04.022. Epub 2013 Apr 30.
- Mucopolysaccharidosis II (Hunter syndrome), a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS), has variable clinical phenotypes. Total by nearly 400 different mutations have been identified in IDS gene from patients with Hunter syndrome. Herein, we reported a patient
- PMID 23726270
- Transgenic mice expressing human glucocerebrosidase variants: Utility for the study of Gaucher disease.
- Sanders A, Hemmelgarn H, Melrose HL, Hein L, Fuller M, Clarke LA.SourceDepartment of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
- Blood cells, molecules & diseases.Blood Cells Mol Dis.2013 Aug;51(2):109-15. doi: 10.1016/j.bcmd.2013.03.006. Epub 2013 Apr 30.
- Gaucher disease is an autosomal recessively inherited storage disorder caused by deficiency of the lysosomal hydrolase, acid β-glucosidase. The disease manifestations seen in Gaucher patients are highly heterogeneous as is the responsiveness to therapy. The elucidation of the precise factors respon
- PMID 23642305
- Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene.
- Cury GK, Matte U, Artigalás O, Alegra T, Velho RV, Sperb F, Burin MG, Ribeiro EM, Lourenço CM, Kim CA, Valadares ER, Galera MF, Acosta AX, Schwartz IV.SourcePost Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul, Brazil. Electronic address: gcury1@hotmail.com.
- Gene.Gene.2013 Jul 15;524(1):59-64. doi: 10.1016/j.gene.2013.03.105. Epub 2013 Apr 6.
- Mucolipidosis II and III (MLII and MLIII) alpha/beta are rare autosomal recessive lysosomal storage diseases (LSDs) caused by pathogenic variations in the GNPTAB gene. GNPTAB gene codes for the α and β subunits of phosphotransferase, the enzyme responsible for synthesis of the mannose-6-phosphate
- PMID 23566849
Japanese Journal
- Newborn screening for Fabry disease in Japan : prevalence and genotypes of Fabry disease in a pilot study
- Inoue Takahito,Hattori Kiyoko,Ihara Kenji [他]
- Journal of human genetics 58(8), 548-552, 2013-08
- NAID 40019747598
- リソソーム病原因タンパク質β-ガラクトシダーゼの構造基盤
- 清水 敏之
- YAKUGAKU ZASSHI 133(5), 509-517, 2013
- … GM1-gangliosidosis and Morquio B are rare lysosomal storage diseases associated with a neurodegenerative disorder or dwarfism and skeletal abnormalities, respectively. … These diseases are caused by deficiencies in the lysosomal enzyme human β-D-galactosidase (h-β-GAL), which lead to accumulations of the h-β-GAL substrates, GM1 ganglioside and keratan sulfate due to mutations in the h-β-GAL gene. …
- NAID 130003361944
- Descriptive Epidemiology of Fabry Disease Among Beneficiaries of the Specified Disease Treatment Research Program in Japan
- TSUBOI Kazuya,SUZUKI Sadao,NAGAI Masaki
- Journal of epidemiology 22(4), 370-374, 2012-07-01
- … Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder and is included in the Specified Disease Treatment Research Program in Japan, which subsidizes medical care for beneficiaries with rare and other, designated diseases. …
- NAID 10030784380
Related Links
- Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides.
- The lysosomal storage disorders (LSDs) are due to deficiencies of lysosomal enzymes caused by mutations of genes that encode the enzyme proteins and related cofactors. Lysosomal enzymes degrade most biomolecules. The products of ...
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★リンクテーブル★
| リンク元 | 「リソソーム酵素欠損症」 |
| 関連記事 | 「disorder」「lysosomal enzyme」「lysosomal」 |
「リソソーム酵素欠損症」
「disorder」
- 障害：個人的苦痛や機能の障害があるので「疾病」とは言えるものの、その背景にある臓器障害がもう一つはっきりしない場合に用いられる。(PSY.9)
- n.
- 注意
- vt.
- 乱す、乱雑にする。(人)の(心身の)調子を狂わせる。
- vi.
「lysosomal enzyme」
「lysosomal」
- adj.
- リソソームの、ライソソームの
- 関
- lysosome