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

Wikipedia preview

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)

wiki en

[Wiki en表示]

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

関連リンク

関連画像


押しても画像が表示されない場合はサーバが混雑しています。2週間ほどあけて、再度押下してください。


★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

WordNet   license wordnet

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

WordNet   license wordnet

「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"」

WordNet   license wordnet

「(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"」

WordNet   license wordnet

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

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」


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


WordNet   license wordnet

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

PrepTutorEJDIC   license prepejdic

「(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊」

PrepTutorEJDIC   license prepejdic

「女性の話術芸人 =diseur」


storage」

  [★]

  • n.
poolpoolingpreservationpreservereservestore

WordNet   license wordnet

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

WordNet   license wordnet

「the act of storing something」

WordNet   license wordnet

「the commercial enterprise of storing goods and materials」

PrepTutorEJDIC   license prepejdic

「(倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料」

I」

  [★]

WordNet   license wordnet

「the 9th letter of the Roman alphabet」
i

PrepTutorEJDIC   license prepejdic

「『私は』私が」

PrepTutorEJDIC   license prepejdic

「iodineの化学記号」

diseased」

  [★]

WordNet   license wordnet

「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)」




★コメント★

[メモ入力エリア]
※コメント5000文字まで
ニックネーム:
コメント:




表示
個人用ツール


  meddic.jp

リンク
連絡