(amylo-1、糖原病3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
- an impairment of health or a condition of abnormal functioning
- (computer science) the process of storing information in a computer memory or on a magnetic tape or disk
- the act of storing something
- the commercial enterprise of storing goods and materials
- the 9th letter of the Roman alphabet (同)i
- 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
- 〈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
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- (倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料
- 『私は』私が
- iodineの化学記号
- 病気にかかった / 病的な,不健全な(morbid)
UpToDate Contents
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- 1. グリコーゲン脱分枝酵素欠損症（糖原病III型） glycogen debrancher deficiency glycogen storage disease iii
- 2. 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
- 3. 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
- 4. 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
- 5. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
English Journal
- Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency?
- Preisler N, Pradel A, Husu E, Madsen KL, Becquemin MH, Mollet A, Labrune P, Petit F, Hogrel JY, Jardel C, Maillot F, Vissing J, Laforêt P.SourceNeuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. Electronic address: npreisler@hotmail.com.
- Molecular genetics and metabolism.Mol Genet Metab.2013 Feb 19. pii: S1096-7192(13)00060-7. doi: 10.1016/j.ymgme.2013.02.008. [Epub ahead of print]
- Myopathic symptoms in Glycogen Storage Disease Type IIIa (GSD IIIa) are generally ascribed to the muscle wasting that these patients suffer in adult life, but an inability to debranch glycogen likely also has an impact on muscle energy metabolism. We hypothesized that patients with GSD IIIa can expe
- PMID 23507172
- Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.
- Sun B, Fredrickson K, Austin S, Tolun AA, Thurberg BL, Kraus WE, Bali D, Chen YT, Kishnani PS.SourceDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. baodong.sun@duke.edu
- Molecular genetics and metabolism.Mol Genet Metab.2013 Feb;108(2):145-7. doi: 10.1016/j.ymgme.2012.12.002. Epub 2012 Dec 27.
- We investigated the feasibility of using recombinant human acid-α glucosidase (rhGAA, Alglucosidase alfa), an FDA approved therapy for Pompe disease, as a treatment approach for glycogen storage disease type III (GSD III). An in vitro disease model was established by isolating primary myoblasts fro
- PMID 23318145
- Effect of dietary interventions in the maintenance of normoglycaemia in glycogen storage disease type 1a: a systematic review and meta-analysis.
- Shah KK, O'Dell SD.SourceDiabetes and Nutritional Sciences Division, School of Medicine, King's College London, London, UK.
- Journal of human nutrition and dietetics : the official journal of the British Dietetic Association.J Hum Nutr Diet.2013 Jan 7. doi: 10.1111/jhn.12030. [Epub ahead of print]
- BACKGROUND: Untreated glycogen storage disease (GSD)-1a patients experience hypoglycaemia and growth retardation. The present study examined the effects of dietary interventions on the maintenance of normoglycaemia.METHODS: Clinical trials were identified from EMBASE (January 1980 to November 2011),
- PMID 23294025
Japanese Journal
- Spectrum of AGL mutations in Chinese patients with glycogen storage disease type Ⅲ : identification of 31 novel mutations
- Journal of human genetics 61(7), 641-645, 2016-07
- NAID 40020884089
- A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type Ⅲ
- Journal of human genetics 59(1), 42-45, 2014-01
- NAID 40019946805
- Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type Ⅲ
- Journal of human genetics 57(3), 170-175, 2012-03-01
- NAID 10030711965
Related Links
- Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally ...
- Type III Glycogen Storage Disease Synonyms: Debrancher Deficiency, Cori Disease, Forbes Disease, Limit Dextrinosis Type III GSD is caused by a deficiency of glycogen debrancher enzyme (GDE) activity. Glycogen debranching ...
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★リンクテーブル★
| リンク元 | 「コリ病」「glycogen storage disease type III」 |
| 関連記事 | 「disease」「type」「II」「I」「storage」 |
「コリ病」
- 英
- Cori disease Cori's disease
- 同
- III型糖原病 type III glycogen storage disease、glycogen storage disease type III 糖原病III型
- フォーブス病 Forbes disease、限界デキストリン症 limit dextrinosis、アミロ-1,6-グルコシダーゼ欠損症 amylo-1,6-glucosidase deficiency、グリコーゲン脱分枝酵素欠損症 glycogen debrancher deficiency、デブランチャー欠損症 debrancher deficiency
- 関
- 糖原病、Coris disease
- debrancher enzyme deficiency
- hypoglycemia, hepatomegaly, short-stature, and myopathty
検査
- normal: lactate, uric acid and increased cholesterol and triglyceride levels.
「glycogen storage disease type III」
(amylo-1、3型糖原貯蔵障害
「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.
- 注意
「type」
- n.
- (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
「II」
「I」
「storage」
- n.