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- 〈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
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- 1. ALA脱水酵素欠損性ポルフィリン症 ala dehydratase porphyria
- 2. 選択的IgE欠損症 selective ige deficiency
- 3. 選択的IgA欠損症：管理および予後 selective iga deficiency management and prognosis
- 4. 稀な（劣性遺伝性）凝固異常 rare recessively inherited coagulation disorders
- 5. アンチトロンビン（ATIII）欠乏症 antithrombin atiii deficiency
English Journal
- Molecular and enzymatic characterization of two enzymes BmPCD and BmDHPR involving in the regeneration pathway of tetrahydrobiopterin from the silkworm Bombyx mori.
- Li W1, Gong M1, Shu R1, Li X1, Gao J1, Meng Y2.
- Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology.Comp Biochem Physiol B Biochem Mol Biol.2015 Aug;186:20-7. doi: 10.1016/j.cbpb.2015.04.006. Epub 2015 Apr 18.
- Tetrahydrobiopterin (BH4) is an essential cofactor of aromatic amino acid hydroxylases and nitric oxide synthase so that BH4 plays a key role in many biological processes. BH4 deficiency is associated with numerous metabolic syndromes and neuropsychological disorders. BH4 concentration in mammals is
- PMID 25899859
- Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.
- Cao YY1, Qu YJ2, Song F3, Zhang T4, Bai JL5, Jin YW6, Wang H7.
- Molecular genetics and metabolism.Mol Genet Metab.2014 Dec;113(4):261-6. doi: 10.1016/j.ymgme.2014.10.004. Epub 2014 Oct 12.
- Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) and tetrahydrobiopterin deficiency (BH4D), according to the defect of enzyme activity, both of which vary substantially in severity, treatment, and prognosis of the disease. To set up a fast and comprehensive assay in order to
- PMID 25456745
- DCo(H2)ding the metabolic functions of SIRT1 in the intestine.
- Lefebvre P1, Staels B2.
- Gastroenterology.Gastroenterology.2014 Apr;146(4):893-6. doi: 10.1053/j.gastro.2014.02.020. Epub 2014 Feb 22.
- PMID 24566103
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| 関連記事 | 「deficiency」「dehydratase」「carbinolamine dehydratase」「carbinolamine」 |
「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
「dehydratase」
- n.