type VI glycogen storage disease

糖原病VI型、糖原病6型

関

glycogen storage disease type VI

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. (computer science) the process of storing information in a computer memory or on a magnetic tape or disk
10. the act of storing something
11. the commercial enterprise of storing goods and materials
12. 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

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. (倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料
5. 病気にかかった / 病的な,不健全な(morbid)

UpToDate Contents

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• 1. 肝ホスホリラーゼ欠損症（糖原病VI型、エール病） liver phosphorylase deficiency glycogen storage disease vi hers disease
• 2. 閉経後のホルモン療法と心血管リスク postmenopausal hormone therapy and cardiovascular risk
• 3. 閉経後のホルモン療法：利益とリスク postmenopausal hormone therapy benefits and risks
• 4. 幼児および小児における低血糖症の病因 etiology of hypoglycemia in infants and children
• 5. ホルモン療法を用いた閉経期症状の治療 treatment of menopausal symptoms with hormone therapy

English Journal

• Hypoglycaemia related to inherited metabolic diseases in adults.

• Douillard C, Mention K, Dobbelaere D, Wemeau JL, Saudubray JM, Vantyghem MC.SourceService d'Endocrinologie et maladies Métaboliques, Hôpital Claude Huriez, Centre Hospitalier Régional et Universitaire de Lille, France. claire.douillard@chru-lille.fr
• Orphanet journal of rare diseases.Orphanet J Rare Dis.2012 May 15;7:26. doi: 10.1186/1750-1172-7-26.
• In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. Nevertheless, some hypoglycaemic episodes remain unexplained, and inborn errors of metabolism (IEM) should be co
• PMID 22587661

• [Enzyme replacement therapy for lysosomal storage disorders].

• Valayannopoulos V, Brassier A, Chabli A, Caillaud C, Lemoine M, Odent T, Arnoux JB, de Lonlay P.SourceCentre de référence des maladies héréditaires du métabolisme de l'enfant et de l'adulte (MaMEA), hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France. vassili.valaya@nck.aphp.fr
• Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie.Arch Pediatr.2011 Oct;18(10):1119-23. doi: 10.1016/j.arcped.2011.07.002. Epub 2011 Aug 27.
• In the last years, much progress has been achieved in the treatment of lysosomal storage disorders. Until recently only symptomatic treatment was available for the affected patients. Progressively enzyme replacement treatments have been developed for several diseases, namely Gaucher disease, Fabry d
• PMID 21873040

• Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.

• Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases.Collaborators (22)Bodamer OA, Burton B, Caggana M, DeJesus V, Gartzke M, Harry Hannon W, Rodney Howell R, Hwu WL, Kishnani PS, Lukacs Z, Marsden D, Matern D, Orsini JJ, Pass K, Scarpa M, Scott R, Thompson J, Vogt RF, Voigtländer T, Wang RY, Watson MS, Wilcox WR.
• Genetics in medicine : official journal of the American College of Medical Genetics.Genet Med.2011 May;13(5):457-84. doi: 10.1097/GIM.0b013e318211a7e1.
• PURPOSE: To develop educational guidelines for the diagnostic confirmation and management of individuals identified by newborn screening, family-based testing after proband identification, or carrier testing in at-risk populations, and subsequent prenatal or postnatal testing of those who are presym
• PMID 21502868

Japanese Journal

• Effect of clonidine on the height of a child with glycogen storage disease type VI : A 13 year follow-up study

• Acta paediatrica Japonica 38(5), 524-528, 1996-10-01
• NAID 10010500145

Related Links

• Type VI Glycogen Storage Disease

A glycogen storage disease (GSD) is the result of an enzyme defect. These enzymes normally catalyze reactions that ultimately convert glycogen compounds to glucose. Enzyme deficiency results in glycogen accumulation in tissues. In many cases, the defect has systemic consequences, but in some cases, the ...

• Glycogen Storage Disease Type VI - GeneReviews® - NCBI ...

Summary Disease characteristics. Glycogen storage disease type VI (GSD VI), a disorder of glycogenolysis caused by deficiency of hepatic glycogen phosphorylase, is characterized in the untreated child by hepatomegaly, growth ...

Related Pictures

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★リンクテーブル★

リンク元	「糖原病VI型」「glycogen storage disease type VI」
関連記事	「disease」「vi」「type」「storage」「V」

「糖原病VI型」

　　[★]

英

type VI glycogen storage disease、glycogen storage disease type VI, glycogenosis type VI

同

肝ホスホリラーゼ欠損性糖原病 hepatophosphorylase deficiency glycogenosis、エール病 Hers disease、肝型グリコーゲンホスホリラーゼ欠損症 liver glycogen phosphorylase deficiency

6型糖原貯蔵障害、糖原病6型

関

糖原病

「glycogen storage disease type VI」

　　[★]

糖原病VI型、6型糖原貯蔵障害

関

Hers disease、Hers' disease、type VI glycogen storage disease

「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

　 　 　

「vi」

　　[★]

• 初速度 initial velocity

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linux

検索

:/<文字列>　：　文字列 を検索する（順方向） 
:?<文字列>　：　文字列を検索する（逆方向） 
:n　　　　　：　順方向へ検索する  
:N　　　　　：　逆方向へ検索する

終了

:q　　　　　：　(何も変更していない場合)保存せずに終了
:q!　　　　　：　(何か変更した場合)保存せずに終了

「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

　 　 　 　 　 　 　 　

「storage」

　　[★]

• n.

• 貯蔵

関

pool、pooling、preservation、preserve、reserve、store

　 　 　 　

「V」

　　[★]

• バリン valine
• ビタミン vitamine
• ventilation