liver glycogen synthase deficiency

肝型グリコーゲン合成酵素欠損症

WordNet

1. pursue a positive and satisfying existence; "You must accept yourself and others if you really want to live"
2. actually being performed at the time of hearing or viewing; "a live television program"; "brought to you live from Lincoln Center"; "live entertainment involves performers actually in the physical presence of a live audience" (同)unrecorded
3. abounding with life and energy; "the club members are a really live bunch"
4. charged with an explosive; "live ammunition"; "a live bomb"
5. exerting force or containing energy; "live coals"; "tossed a live cigarette out the window"; "got a shock from a live wire"; "live ore is unmined ore"; "a live bomb"; "a live ball is one in play"
6. highly reverberant; "a live concert hall"
7. in current use or ready for use; "live copy is ready to be set in type or already set but not yet proofread"
8. lead a certain kind of life; live in a certain style; "we had to live frugally after the war"
9. not recorded; "the opera was broadcast live"
10. of current relevance; "a live issue"; "still a live option"
11. a person who has a special life style; "a high liver"
12. large and complicated reddish-brown glandular organ located in the upper right portion of the abdominal cavity; secretes bile and functions in metabolism of protein and carbohydrate and fat; synthesizes substances involved in the clotting of the blood; sy
13. liver of an animal used as meat
14. someone who lives in a place; "a liver in cities"
15. one form in which body fuel is stored; stored primarily in the liver and broken down into glucose when needed by the body (同)animal_starch

PrepTutorEJDIC

1. 『生きている』,生命がある / 《副詞[句]を伴って》〈人などが〉『生き続ける』 / 〈物事が〉長く続く,存続する / 《場所を表す副詞[句]を伴って》〈人などが〉『住む』,居住する / 《副詞[句]を伴って》『生活する』,暮らす / 生人を楽しむ,おもしろく桟らす / 《a+形容詞癌lifeを目的語にして》〈…を生活〉‘を'する / 〈思想など〉‘を'実銭する
2. 《名詞の前にのみ用いて》『生きている』 / 『活気のある』 / (問題などが)当面の / 燃えている / (弾丸などが)まだ爆発してない,未発の / まだ動いている(働いている),有効な / 電流が通じている / (放走が)生の,実況の
3. (ある態度で)生活する人;居住者
4. 〈C〉『肝臓』 / 〈U〉(食用にする)動物の肝臓,レバー
5. 〈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
6. グリコーゲン,糖原

UpToDate Contents

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• 1. 肝グリコーゲン合成酵素欠損症（糖原病0型） liver glycogen synthase deficiency glycogen storage disease 0
• 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. グルコース-6-ホスファターゼ欠損症（糖原病I型、フォンギールケ病） glucose 6 phosphatase deficiency glycogen storage disease i von gierke disease
• 4. 乳児および小児における低血糖症の原因 causes of hypoglycemia in infants and children

English Journal

• Antisense Oligonucleotide-mediated Suppression of Muscle Glycogen Synthase 1 Synthesis as an Approach for Substrate Reduction Therapy of Pompe Disease.

• Clayton NP1, Nelson CA2, Weeden T1, Taylor KM1, Moreland RJ1, Scheule RK1, Phillips L1, Leger AJ1, Cheng SH1, Wentworth BM1.
• Molecular therapy. Nucleic acids.Mol Ther Nucleic Acids.2014 Oct 28;3:e206. doi: 10.1038/mtna.2014.57.
• Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase (GAA; EC 3.2.1.20) and the resultant progressive lysosomal accumulation of glycogen in skeletal and cardiac muscles. Enzyme replacement therapy using recombinant human GAA (rhGAA) has proven beneficial in
• PMID 25350581

• Sterol regulatory element-binding protein-1 (SREBP-1) is required to regulate glycogen synthesis and gluconeogenic gene expression in mouse liver.

• Ruiz R1, Jideonwo V, Ahn M, Surendran S, Tagliabracci VS, Hou Y, Gamble A, Kerner J, Irimia-Dominguez JM, Puchowicz MA, DePaoli-Roach A, Hoppel C, Roach P, Morral N.
• The Journal of biological chemistry.J Biol Chem.2014 Feb 28;289(9):5510-7. doi: 10.1074/jbc.M113.541110. Epub 2014 Jan 7.
• Sterol regulatory element-binding protein-1 (SREBP-1) is a key transcription factor that regulates genes in the de novo lipogenesis and glycolysis pathways. The levels of SREBP-1 are significantly elevated in obese patients and in animal models of obesity and type 2 diabetes, and a vast number of st
• PMID 24398675

• AMPK activation regulates neuronal structure in developing hippocampal neurons.

• Ramamurthy S1, Chang E1, Cao Y1, Zhu J1, Ronnett GV2.
• Neuroscience.Neuroscience.2014 Feb 14;259:13-24. doi: 10.1016/j.neuroscience.2013.11.048. Epub 2013 Dec 1.
• AMP-activated protein kinase (AMPK) is a serine/threonine kinase that functions as a cellular and whole organism energy sensor to regulate ATP-consuming (anabolic) and ATP-generating (catabolic) pathways. The heterotrimeric AMPK complex consists of a catalytic α-subunit, regulatory β-subunit, and
• PMID 24295634

Japanese Journal

• ラット肝中の糖質代謝系及び脂肪酸合成系酵素活性に及ぼす食餌性ビタミンB_6欠乏の影響

• ビタミン 53(11), 447-454, 1979-11-25
• NAID 110002845190

Related Links

• Liver glycogen synthase deficiency - RightDiagnosis.com

Liver glycogen synthase deficiency symptoms, causes, diagnosis, and treatment information for Liver glycogen synthase deficiency (Glycogenosis, type 0) with alternative diagnoses, full-text book chapters, misdiagnosis, research ...

• Liver glycogen synthase deficiency: A rarely diagnosed entity ...

... activity. Metabolic profiles comprising glucose, lactate, alanine, and ketones in blood were typical for hepatic glycogen synthase deficiency. Symptoms were rapidly relieved and chemical signs corrected by introducing ...

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★リンクテーブル★

リンク元	「肝型グリコーゲン合成酵素欠損症」
関連記事	「deficiency」「synthase」「live」「liver glycogen」「glycogen synthase」

「肝型グリコーゲン合成酵素欠損症」

　　[★]

英

liver glycogen synthase deficiency

関

糖原病0型

「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

　

「synthase」

　　[★]

• n.

• (脱離酵素リアーゼの逆反応である合成方向の反応を指す) シンターゼ, 合成酵素, 付加酵素

関

lyase、synthetase、transferase

「live」

　　[★]

[liv]

• vt.
• vi.

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[laiv]

• adj.

同

LAIV

　 　 　 　 　 　 　 　 　 　 　 　

「liver glycogen」

　　[★]

• 肝グリコーゲン、肝臓グリコーゲン

関

hepatic glycogen

「glycogen synthase」

　　[★] グリコーゲンシンターゼ