WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
- 投手
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/03/05 14:37:55」(JST)
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- 1. ムコ多糖症：臨床的特徴および診断 mucopolysaccharidoses clinical features and diagnosis
- 2. ムコ多糖症：合併症およびマネージメント mucopolysaccharidoses complications and management
English Journal
- Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry.
- Elliott S1, Buroker N1, Cournoyer JJ2, Potier AM2, Trometer JD2, Elbin C2, Schermer MJ2, Kantola J3, Boyce A1, Turecek F4, Gelb MH4, Scott CR1.
- Data in brief.Data Brief.2016 Jul 5;8:915-24. doi: 10.1016/j.dib.2016.06.052. eCollection 2016.
- In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry, Niemann-Pick-A/B, Gaucher, and Krabbe, (Elliott, et
- PMID 27508243
- Elements of lentiviral vector design toward gene therapy for treating mucopolysaccharidosis I.
- Ou L1, Przybilla MJ1, Koniar BL2, Whitley CB1.
- Molecular genetics and metabolism reports.Mol Genet Metab Rep.2016 Aug 13;8:87-93. doi: 10.1016/j.ymgmr.2015.11.004. eCollection 2016.
- Mucopolysaccharidosis type I (MPS I) is a lysosomal disease caused by α-l-iduronidase (IDUA) deficiency and accumulation of glycosaminoglycans (GAG). Lentiviral vector encoding correct IDUA cDNA could be used for treating MPS I. To optimize the lentiviral vector design, 9 constructs were designed b
- PMID 27556013
- The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences.
- Bruni S1, Lavery C2, Broomfield A3.
- Molecular genetics and metabolism reports.Mol Genet Metab Rep.2016 Aug 2;8:67-73. doi: 10.1016/j.ymgmr.2016.07.006. eCollection 2016.
- Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease. Affected individuals have disease ranging from attenuated to severe with significant disease burden, disability, and premature death. Early treatment with enzyme replacement therapy and/or stem cell transplantation can r
- PMID 27536552
Japanese Journal
- Structural study on mutant α-L-iduronidases : insight into mucopolysaccharidosis type I
- Sugawara Kanako,Saito Seiji,Ohno Kazuki [他],OKUYAMA Torayuki,SAKURABA Hitoshi
- Journal of human genetics 53(5), 467-474, 2008-05-01
- NAID 10021249036
- ムコ多糖症I型に対する本邦初の酵素補充療法
- 小林 博司,有賀 賢典,田嶼 朝子 [他],櫻井 謙,藤原 優子,寺野 和宏,宮田 市郎,井田 博幸,大橋 十也,衞藤 義勝
- 日本小児科学会雑誌 110(4), 521-525, 2006-04-01
- NAID 10018351971
Related Links
- From Wikipedia, the free encyclopedia. Jump to: navigation, search. Hurler– Scheie syndrome (also known as "Mucopolysaccharidosis type I H-S") is a cutaneous condition, also characterized by mild mental retardation and corneal clouding.
- MPS I H or Hurler syndrome is the most severe of the MPS I subtypes. The other two types are MPS I S or Scheie syndrome and MPS I H-S or Hurler-Scheie syndrome. Hurler syndrome is often classified as a lysosomal storage disease, and is ...
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★リンクテーブル★
| リンク元 | 「ハーラー・シャイエ症候群」「mucopolysaccharidosis I」「Hurler-Scheie症候群」 |
| 関連記事 | 「syndrome」 |
「ハーラー・シャイエ症候群」
- 英
- Hurler-Scheie syndrome
- 同
- ムコ多糖症IH/IS型 mucopolysaccharidosis type IH/IS MPS IH/IS、Hurler-Scheie症候群
- 関
- ハーラー症候群 ハーラー病、シャイエ症候群、ムコ多糖症I型
「mucopolysaccharidosis I」
- 関
- Hurler-Scheie syndrome、Hurler's disease、Hurler's syndrome
「Hurler-Scheie症候群」
「syndrome」
- n.