deficiency of phosphofructokinase

ホスホフルクトキナーゼ欠乏症

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1. 《所有・所属》…『の』,…のものである,…に属する・《材料・要素》…『でできた』,から成る・《部分》…『の』[『中の』] ・《数量・単位・種類を表す名詞に付いて》…の・《原因・動機》…『で』,のために(because of) ・《主格関係》…『の』,による,によって・《目的格関係》…『を』,の・《同格関係》…『という』・《関係・関連》…『についての』[『の』],の点で・《抽象名詞などと共に》…の[性質をもつ] ・《『It is』+『形』+『of』+『名』+『to』 doの形で,ofの後の名詞を意味上の主語として》・《分離》…『から』・《起原・出所》…『から』[『の』](out of) ・《『名』+『of』+『a』(『an』)+『名』の形で》…のような・《『名』+『of』+『mine』(『yours, his』など独立所有格)の形で》…の…・《時》(1)《副詞句を作って》…に《形容詞句を作って》…の・《時刻》《米》…前(to,《米》before)
2. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
3. OLD French古[代]フランス語

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• 1. ホスホフルクトキナーゼ欠損症（糖原病VII型、垂井病） phosphofructokinase deficiency glycogen storage disease vii tarui disease
• 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. ケトン食 the ketogenic diet
• 4. ホスホグリセリン酸キナーゼ欠損症およびホスホグリセリン酸ムターゼ欠損症 phosphoglycerate kinase deficiency and phosphoglycerate mutase deficiency
• 5. 小児における溶血性貧血の概要 overview of hemolytic anemias in children

English Journal

• Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

• Mori M1, Bailey LA2, Estrada J3, Rehder CW3, Li JS4, Rogers JG5, Bali DS2, Buckley AF3, Kishnani PS2.
• JIMD reports.JIMD Rep.2017;31:79-83. doi: 10.1007/8904_2016_563. Epub 2016 May 4.
• Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII).
• PMID 27142047

• Differential glucose metabolism in mice and humans affected by McArdle disease.

• Krag TO1, Pinós T2, Nielsen TL3, Duran J4, García-Rocha M5, Andreu AL6, Vissing J3.
• American journal of physiology. Regulatory, integrative and comparative physiology.Am J Physiol Regul Integr Comp Physiol.2016 Aug 1;311(2):R307-14. doi: 10.1152/ajpregu.00489.2015. Epub 2016 Jun 8.
• McArdle disease (muscle glycogenosis type V) is a disease caused by myophosphorylase deficiency leading to "blocked" glycogen breakdown. A significant but varying glycogen accumulation in especially distal hind limb muscles of mice affected by McArdle disease has recently been demonstrated. In this
• PMID 27280431

• Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease.

• Piirilä P1, Similä ME2, Palmio J3, Wuorimaa T1, Ylikallio E4, Sandell S5, Haapalahti P1, Uotila L6, Tyynismaa H7, Udd B3, Auranen M8.
• Frontiers in neurology.Front Neurol.2016 May 30;7:82. doi: 10.3389/fneur.2016.00082. eCollection 2016.
• INTRODUCTION: Glycogen storage disease V (GSDV, McArdle disease) and GSDVII (Tarui disease) are the most common of the rare disorders of glycogen metabolism. Both are associated with low lactate levels on exercise. Our aim was to find out whether lactate response associated with exercise testing cou
• PMID 27303362

Japanese Journal

• Infantile phosphofructokinase deficiency with arthogryposis; clinical benefit of a ketogenic diet

• J Pediatr 131, 932-934, 1997
• NAID 30017437648

• Improvement of Hemolysis in Muscle Phosphofructokinase Deficiency by Restriction of Exercise

• Internal medicine 35(3), 222-226, 1996-03
• NAID 10006593950

• A new variant of muscle phosphofructokinase deficiency in a Japanese case with abnormal RNA splicing.

• Biochem Biophys Res Commun 202, 444, 1994
• NAID 30017786898

Related Links

• Phosphofructokinase deficiency (glycogen storage disease VII ...

Ronquist G, Rudolphi O, Engström I, Waldenström A. Familial phosphofructokinase deficiency is associated with a disturbed calcium homeostasis in erythrocytes. J Intern Med 2001; 249:85. Howard TD, Akots G, Bowden DW.

• Phosphofructokinase deficiency impairs ATP generation ...

1. J Exp Med. 2013 Sep 23;210(10):2119-34. doi: 10.1084/jem.20130252. Epub 2013 Sep 16. Phosphofructokinase deficiency impairs ATP generation, autophagy, and redox balance in rheumatoid arthritis T cells. Yang Z(1), Fujii H ...

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リンク元	「ホスホフルクトキナーゼ欠乏症」
関連記事	「deficiency」「phosphofructokinase」

「ホスホフルクトキナーゼ欠乏症」

　　[★]

英

deficiency of phosphofructokinase

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「phosphofructokinase」

　　[★] ホスホフルクトキナーゼ