UMP synthase deficiency

ウリジル酸シンターゼ欠損症

WordNet

1. the 21st letter of the Roman alphabet (同)u

PrepTutorEJDIC

1. 〈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
2. uraniumの化学記号
3. 上流の,上流階級にふさわしい / (映画が)児童観覧用の

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. 複合免疫不全 combined immunodeficiencies
• 3. Causes of hypoglycemia in infants and children
• 4. 低アルドステロン症（4型RTA）の病因、診断、および治療 etiology diagnosis and treatment of hypoaldosteronism type 4 rta
• 5. IgG サブクラス欠乏症 igg subclass deficiency

English Journal

• Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

• Wortmann SB1,2,3, Chen MA4, Colombo R5, Pontoglio A6, Alhaddad B7, Botto LD8, Yuzyuk T9,10, Coughlin CR11, Descartes M12, Grűnewald S13, Maranda B14, Mills PB15, Pitt J16,17, Potente C18, Rodenburg R19, Kluijtmans LA19, Sampath S4, Pai EF20, Wevers RA19, Tiller GE21; and additional individual contributors.
• Journal of inherited metabolic disease.J Inherit Metab Dis.2017 May;40(3):423-431. doi: 10.1007/s10545-017-0015-9. Epub 2017 Feb 15.
• PMID 28205048

• Orotic Acid, More Than Just an Intermediate of Pyrimidine de novo Synthesis.

• Löffler M1, Carrey EA2, Zameitat E3.
• Journal of genetics and genomics = Yi chuan xue bao.J Genet Genomics.2015 May 20;42(5):207-19. doi: 10.1016/j.jgg.2015.04.001. Epub 2015 Apr 18.
• PMID 26059769

• Hereditary orotic aciduria with epilepsy and without megaloblastic anemia.

• Grohmann K1, Lauffer H1, Lauenstein P1, Hoffmann GF2, Seidlitz G1.
• Neuropediatrics.Neuropediatrics.2015 Apr;46(2):123-5. doi: 10.1055/s-0035-1547341. Epub 2015 Mar 10.
• PMID 25757096

Related Links

• UMP synthase deficiency - RightDiagnosis.com

UMP synthase deficiency information including symptoms, causes, diseases, symptoms, treatments, and other medical and health issues. ... UMP synthase deficiency: Related Topics These medical condition or symptom topics ...

• UMP synthase deficiency | definition of UMP synthase ...

Looking for online definition of UMP synthase deficiency in the Medical Dictionary? UMP synthase deficiency explanation free. What is UMP synthase deficiency? Meaning of UMP synthase deficiency medical term. What does ...

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★リンクテーブル★

リンク元	「ウリジル酸シンターゼ欠損症」
関連記事	「deficiency」「synthase」「UMP」「U」

「ウリジル酸シンターゼ欠損症」

　　[★]

英

UMP synthase deficiency

関

オロト酸尿症

「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

「UMP」

　　[★]

同

uridine monophosphate

同

uridine monophosphate

同

uridine monophosphate

「U」

　　[★]

• ウラシル ウリジン
• U波