シアリドーシス4型
WordNet
- write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
- a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
- (biology) the taxonomic group whose characteristics are used to define the next higher taxon
- a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
- all of the tokens of the same symbol; "the word `element contains five different types of character"
- printed characters; "small type is hard to read"
- identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
- writing done with a typewriter (同)typewriting
PrepTutorEJDIC
- 〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
UpToDate Contents
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English Journal
- Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene.
- Gowda VK1,2, Srinivasan VM3, Benakappa N3, Benakappa A3.
- Indian journal of pediatrics.Indian J Pediatr.2017 Jan 31. doi: 10.1007/s12098-016-2286-9. [Epub ahead of print]
- PMID 28138907
- Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.
- Mütze U1, Bürger F2, Hoffmann J3, Tegetmeyer H4, Heichel J5, Nickel P6, Lemke JR7, Syrbe S1, Beblo S6.
- Molecular genetics and metabolism reports.Mol Genet Metab Rep.2016 Dec 1;10:1-4. eCollection 2017.
- PMID 27942463
- Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs.
- Ellsworth KA1, Pollard LM1, Cathey S1, Wood T2.
- JIMD reports.JIMD Rep.2016 Jul 28. [Epub ahead of print]
- PMID 27469132
Japanese Journal
- Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the NEU1 Gene
- Sekijima Yoshiki,Nakamura Katsuya,Kishida Dai,Narita Aya,Adachi Kaori,Ohno Kosaku,Nanba Eiji,Ikeda Shu-ichi
- Internal Medicine 52(1), 119-124, 2013
- … The case of a Japanese sialidosis type I patient with a novel NEU1 gene mutation is described. … The p.D135N mutation is a novel mutation that is considered to be associated with the mild clinical phenotype of sialidosis. …
- NAID 130003365573
- 坂爪 由夏,田中 真,磯部 逸夫,冨永 里香,難波 栄二,岡本 幸市
- 臨床神経学 : CLINICAL NEUROLOGY 44(8), 541-544, 2004-08-01
- NAID 10013503464
- Molecular and structural studies of Japanese patients with sialidosis type 1
- Naganawa Yasunori,Itoh Kohji,Shimmoto Michie [他],TAKIGUCHI Kyoko,DOI Hirofumi,NISHIZAWA Yuzuru,KOBAYASHI Takayoshi,KAMEI Sachiko,LUKONG Kiven E.,PSHEZHETSKY Alexey V.,SAKURABA Hitoshi
- Journal of human genetics 45(4), 241-249, 2000-07-01
- NAID 10011570484
Related Links
- The incidence of all types of sialidosis is estimated at 1/4 200 000 live births. Two forms of type 2 sialidosis have been described: a congenital or neonatal onset form, and an infantile form. The congenital form may manifest ...
- Type 1 sialidosis is also called normomorphic or 'cherry-red-spot, myoclonus' syndrome. The incidence of all types of sialidosis is estimated at 1/4 200 000 live births. The disease begins at between 8 and 25 years of age, with ...
★リンクテーブル★
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- 英
- sialidosis type 4
- 同
- シアル酸尿症 sialuria
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- (windows)ファイル内容表示(linux -> cat])
- ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html
- 関
- form、mode、pattern、type specimen、typed
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- 関
- form、mode、pattern、type
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