liver phosphorylase deficiency

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"

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

UpToDate Contents

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• 1. 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
• 2. 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
• 3. 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
• 4. 閉経期のホルモン療法と心血管リスク menopausal hormone therapy and cardiovascular risk
• 5. 肝肥大：鑑別診断および評価 hepatomegaly differential diagnosis and evaluation

English Journal

• Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

• Halter JP1, Michael W2, Schüpbach M3, Mandel H4, Casali C5, Orchard K6, Collin M7, Valcarcel D8, Rovelli A9, Filosto M10, Dotti MT11, Marotta G12, Pintos G13, Barba P8, Accarino A8, Ferra C14, Illa I15, Beguin Y16, Bakker JA17, Boelens JJ18, de Coo IF19, Fay K20, Sue CM21, Nachbaur D22, Zoller H22, Sobreira C23, Pinto Simoes B24, Hammans SR25, Savage D26, Martí R27, Chinnery PF7, Elhasid R28, Gratwohl A29, Hirano M30.
• Brain : a journal of neurology.Brain.2015 Aug 10. pii: awv226. [Epub ahead of print]
• Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency. We conducted a retrospective analysis of all known pati
• PMID 26264513

• Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro.

• de Luna N1, Brull A1, Guiu JM1, Lucia A2, Martin MA3, Arenas J3, Martí R1, Andreu AL4, Pinós T4.
• Disease models & mechanisms.Dis Model Mech.2015 May;8(5):467-72. doi: 10.1242/dmm.020230. Epub 2015 Mar 11.
• McArdle disease, also termed 'glycogen storage disease type V', is a disorder of skeletal muscle carbohydrate metabolism caused by inherited deficiency of the muscle-specific isoform of glycogen phosphorylase (GP-MM). It is an autosomic recessive disorder that is caused by mutations in the PYGM gene
• PMID 25762569

Japanese Journal

• 臨床研究・症例報告 軽度の肝腫大,肝障害で経過観察されていたX連鎖性肝型ホスホリラーゼbキナーゼ欠損症の双胎児

• 西尾 信博,邊見 勇人,佐々木 明
• 小児科臨床 65(2), 243-247, 2012-02
• NAID 40019146471

• Autosomal recessive phosphorylase kinase deficiency in liver caused by mutations in the gene coding the beta subunit (PHKB)

• VAN DEN BERG I. E. T.
• Am J Hum Genet 61, 539-546, 1997
• NAID 30031161829

Related Links

• Liver phosphorylase deficiency (glycogen storage disease VI ...

There are a number of inborn errors of glycogen metabolism that result from mutations in genes for virtually all of the proteins involved in glycogen synthesis, degradation, or regulation. Those disorders that result in ...

• Liver phosphorylase deficiency - RightDiagnosis.com

Liver phosphorylase deficiency symptoms, causes, diagnosis, and treatment information for Liver phosphorylase deficiency (Glycogen storage disease type 6) with alternative diagnoses, full-text book chapters ...

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★リンクテーブル★

関連記事	「deficiency」「live」「liver」

「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

　

「live」

　　[★]

[liv]

• vt.
• vi.

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[laiv]

• adj.

同

LAIV

　 　 　 　 　 　 　 　 　 　 　 　

「liver」

　　[★] 肝臓