type 3 Gaucher disease

3型ゴーシェ病、ゴーシェ病3型、3型Gaucher病

関

Gaucher disease、Gaucher's disease、type 1 Gaucher disease、type 2 Gaucher disease

WordNet

1. write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
2. 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"
3. (biology) the taxonomic group whose characteristics are used to define the next higher taxon
4. a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
5. all of the tokens of the same symbol; "the word `element contains five different types of character"
6. printed characters; "small type is hard to read"
7. identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
8. an impairment of health or a condition of abnormal functioning
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
10. writing done with a typewriter (同)typewriting

PrepTutorEJDIC

1. 〈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
2. (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
3. 女性の話術芸人 =diseur
4. 病気にかかった / 病的な,不健全な(morbid)

UpToDate Contents

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• 1. ゴーシェ病：病因、臨床症状、および診断 gaucher disease pathogenesis clinical manifestations and diagnosis
• 2. ゴーシェ病：治療 gaucher disease treatment
• 3. ゴーシェ病：初期評価、モニタリング、および臨床経過 gaucher disease initial assessment monitoring and clinical course
• 4. アシュケナージ系ユダヤ人集団における遺伝的疾患の出生前スクリーニング prenatal screening for genetic disease in the ashkenazi jewish population
• 5. 遺伝性の魚鱗癬の概要 overview of the inherited ichthyoses

English Journal

• An intronic haplotype in α galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke.

• Zeevi DA1, Hakam-Spector E1, Herskovitz Y1, Beeri R1, Elstein D2, Altarescu G1.
• Gene.Gene.2014 Oct 10;549(2):275-9. doi: 10.1016/j.gene.2014.08.004. Epub 2014 Aug 4.
• Persons with unexplained early-onset stroke have been targeted for screening surveys for Fabry disease, the most common of the three X-linked lysosomal disorders, because Fabry patients with stroke are more likely to have the life-threatening progressive cardiac and renal manifestations and would th
• PMID 25101867

• Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1.

• Machaczka M1, Klimkowska M.
• Annals of hematology.Ann Hematol.2014 Oct;93(10):1787-9. doi: 10.1007/s00277-014-2036-x. Epub 2014 Feb 28.
• PMID 24577513

• Extraosseous Gaucher cell deposition without adjacent bone involvement.

• Meyer BJ1, Mills AM, Gaskin CM.
• Skeletal radiology.Skeletal Radiol.2014 Oct;43(10):1495-8. doi: 10.1007/s00256-014-1927-1. Epub 2014 Jun 22.
• Extraosseous Gaucher cell deposits are a rare complication of Gaucher disease that can mimic malignancy. We describe a case of Gaucher cell deposition in the subcutaneous soft tissues overlying the lower thoracic spine in an 18-year-old woman with known type III Gaucher disease. This case is unique
• PMID 24952923

Japanese Journal

• Anti-apoptotic and Beneficial Metabolic Activities of Resveratrol in Type Ⅱ Gaucher Disease

• Biological and Pharmaceutical Bulletin 38(6), 913-918, 2015
• NAID 130005072653

• Cholelithiasis in a Patient with Type 2 Gaucher Disease

• Journal of Nippon Medical School 81(1), 40-42, 2014
• NAID 130004147280

• 症例 コロジオン児として出生したGaucher病2型の1例

• 皮膚科の臨床 54(13), 1893-1895, 2012-12
• NAID 40019515618

Related Links

• Gaucher Disease Types 2 & 3 | National Gaucher Foundation

Unlike Gaucher disease type 1, Gaucher disease types 2 and 3 have early onset brain involvement that gets worse over time. For this reason, Gaucher disease types 2 and 3 are known as neuronopathic Gaucher disease. Currently ...

• Type 3 - Gauchers Association - Information and Support for ...

What is Type 3 Gaucher disease? In type 3 Gaucher disease there is neurological involvement but it is not as severe as that seen in type 2. How common is Type 3 GD? nGD is a very rare condition. By 2011, only 334 children (<18 ...

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★リンクテーブル★

リンク元	「type 1 Gaucher disease」「type 2 Gaucher disease」「ゴーシェ病3型」「3型Gaucher病」「3型ゴーシェ病」
関連記事	「disease」「type」「typed」「typing」

「type 1 Gaucher disease」

　　[★]

ゴーシェ病1型、1型ゴーシェ病、1型Gaucher病

関

Gaucher disease、Gaucher's disease、type 2 Gaucher disease、type 3 Gaucher disease

「type 2 Gaucher disease」

　　[★]

2型ゴーシェ病、ゴーシェ病2型、2型Gaucher病

関

Gaucher disease、Gaucher's disease、type 1 Gaucher disease、type 3 Gaucher disease

「ゴーシェ病3型」

　　[★]

英

type 3 Gaucher disease

関

ゴーシェ病、ゴーシェ病1型、ゴーシェ病2型、3型ゴーシェ病、3型Gaucher病

「3型Gaucher病」

　　[★]

英

type 3 Gaucher disease

関

ゴーシェ病3型、3型ゴーシェ病

「3型ゴーシェ病」

　　[★]

英

type 3 Gaucher disease

関

ゴーシェ病3型、3型Gaucher病

「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.

関

ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

• 注意

disease ≠ illness ≠ disorder

　 　 　

「type」

　　[★]

• n.

• 型、タイプ、(生物)タイプ標本

(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

　 　 　 　 　 　 　 　

「typed」

　　[★]

• adj.

• 型の

関

form、mode、pattern、type

「typing」

　　[★]

• n.

• タイプで打つこと、タイピング。分類