glycogen storage disease type III

出典: meddic

(amylo-1、3型糖原貯蔵障害

Cori's diseasedebrancher deficiencylimit dextrinosistype III glycogen storage disease

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/09/30 21:44:10」(JST)

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英文文献

  • Pathological characteristics of glycogen storage disease III in skeletal muscle.
  • Gershen LD1, Prayson BE2, Prayson RA3.
  • Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia.J Clin Neurosci.2015 Jun 9. pii: S0967-5868(15)00229-5. doi: 10.1016/j.jocn.2015.03.041. [Epub ahead of print]
  • We report a 25-year-old man with glycogenosis III who presented with a progressive 2year history of fatigue, hand stiffness and cramping. The glycogenoses are a group of rare metabolic disorders which develop as a result of deficiencies in various enzymes involved in the metabolism of glycogen. Some
  • PMID 26067541
  • Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V.
  • Hogrel JY1, van den Bogaart F, Ledoux I, Ollivier G, Petit F, Koujah N, Béhin A, Stojkovic T, Eymard B, Voermans N, Laforêt P.
  • European journal of neurology : the official journal of the European Federation of Neurological Societies.Eur J Neurol.2015 Jun;22(6):933-40. doi: 10.1111/ene.12685. Epub 2015 Mar 5.
  • BACKGROUND AND PURPOSE: This was a retrospective study to assess the diagnostic value of the non-ischaemic forearm exercise test in detecting McArdle's disease.METHODS: The study is a retrospective diagnostic study over 15 years (1999-2013) on a referred sample of patients suffering from exercise i
  • PMID 25740218
  • Lessons from two cases: is Fabry disease the correct diagnosis?
  • Kiykim E1, Aktuglu Zeybek CA1, Zubarioglu T1, Aydin A1.
  • BMJ case reports.BMJ Case Rep.2015 May 12;2015. pii: bcr2014208150. doi: 10.1136/bcr-2014-208150.
  • Fabry disease (FD) is an X linked inherited lysosomal storage disorder with complex multisystem involvement; it is caused by deficiency of the lysosomal enzyme α-galactosidase. Deficient enzyme activity leads to a wide spectrum of clinical manifestations consisting of dermatological, ophthalmologic
  • PMID 25969484

和文文献

  • 糖原病III a型に慢性膵炎を合併し糖尿病を生じた1例
  • 齋藤 幸枝,土持 若葉,上野 浩晶,野間 健之,秋山 寛,水田 雅也,石川 眞理,松倉 茂,福田 冬季子,杉江 秀夫,中里 雅光
  • 糖尿病 51(7), 615-618, 2008-07-30
  • NAID 10022611070
  • A Japanese Patient With Cardiomyopathy Caused by a Novel Mutation R285X in the AGL Gene
  • Ogimoto Akiyoshi,Okubo Minoru,Okayama Hideki,Shin Yoon S.,Endo Yoriko,Ebara Tetsu,Inoue Katsuji,Ohtsuka Tomoaki,Tahara Hideki,Murase Toshio,Higaki Jistuo
  • Circulation journal : official journal of the Japanese Circulation Society 71(10), 1653-1656, 2007-09-20
  • … Left ventricular hypertrophy (LVH) is primarily or secondarily caused by a cardiovascular or systemic disease. … The patient was diagnosed with glycogen storage disease type IIIa (GSD-IIIa). … Echocardiography showed that he had severe LVH, and concomitant hepatomegaly and hypoglycemia, which led to measurement of glycogen debranching enzyme (GDE) activity ; …
  • NAID 110006391147

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★リンクテーブル★
リンク元コリ病」「3型糖原貯蔵障害」「type III glycogen storage disease
関連記事type」「disease」「storage」「I」「diseased

コリ病」

  [★]

Cori disease Cori's disease
III型糖原病 type III glycogen storage diseaseglycogen 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
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.


3型糖原貯蔵障害」

  [★]

glycogen storage disease type III
コリ病糖原病III型脱分枝酵素欠損症限界デキストリン症


type III glycogen storage disease」

  [★]

(amylo-1、糖原病3型

glycogen storage disease type III


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
formmodepatterntype specimentyped

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「write by means of a keyboard with types; "type the acceptance letter, please"」
typewrite

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「(biology) the taxonomic group whose characteristics are used to define the next higher taxon」

WordNet   license wordnet

「a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"」

WordNet   license wordnet

「all of the tokens of the same symbol; "the word `element'' contains five different types of character"」

WordNet   license wordnet

「printed characters; "small type is hard to read"」

PrepTutorEJDIC   license prepejdic

「〈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」

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「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"」

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「identify as belonging to a certain type; "Such people can practically be typed"」
typecast


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.
ailailmentdisease entitydisorderillillnessmaladysicksickness
  • 注意
diseaseillnessdisorder


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「an impairment of health or a condition of abnormal functioning」

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「(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊」

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「女性の話術芸人 =diseur」


storage」

  [★]

  • n.
poolpoolingpreservationpreservereservestore

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「(computer science) the process of storing information in a computer memory or on a magnetic tape or disk」

PrepTutorEJDIC   license prepejdic

「(倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料」

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「the act of storing something」

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「the commercial enterprise of storing goods and materials」


I」

  [★]

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「the 9th letter of the Roman alphabet」
i

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「『私は』私が」

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「iodineの化学記号」


diseased」

  [★]

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「caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes"」
morbid, pathologic, pathological

PrepTutorEJDIC   license prepejdic

「病気にかかった / 病的な,不健全な(morbid)」




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