PrepTutorEJDIC
- 〈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. 尿素サイクル障害：臨床的特徴および診断 urea cycle disorders clinical features and diagnosis
- 2. 尿素サイクル障害：管理 urea cycle disorders management
- 3. 脱毛の評価および診断 evaluation and diagnosis of hair loss
- 4. 幼児および小児における精密な神経学的評価 detailed neurologic assessment of infants and children
English Journal
- Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
- Balmer C1, Pandey AV, Rüfenacht V, Nuoffer JM, Fang P, Wong LJ, Häberle J.
- Human mutation.Hum Mutat.2014 Jan;35(1):27-35. doi: 10.1002/humu.22469. Epub 2013 Nov 25.
- Argininosuccinate lyase deficiency (ASLD) is caused by a defect of the urea cycle enzyme argininosuccinate lyase (ASL) encoded by the ASL gene. Patients often present early after birth with hyperammonemia but can also manifest outside the neonatal period mainly triggered by excessive protein catabol
- PMID 24166829
- Two different approaches to restore renal nitric oxide and prevent hypertension in young spontaneously hypertensive rats: l-citrulline and nitrate.
- Chien SJ1, Lin KM1, Kuo HC1, Huang CF1, Lin YJ1, Huang LT2, Tain YL3.
- Translational research : the journal of laboratory and clinical medicine.Transl Res.2014 Jan;163(1):43-52. doi: 10.1016/j.trsl.2013.09.008. Epub 2013 Oct 8.
- Nitric oxide (NO) deficiency mediates oxidative stress in the kidney and is involved in the development of hypertension. NO synthesis occurs via 2 pathways: nitric oxide synthase (NOS) dependent and NOS-independent. We tested whether the development of hypertension is prevented by restoration of NO
- PMID 24113064
- Dietary management of urea cycle disorders: European practice.
- Adam S1, Almeida MF, Assoun M, Baruteau J, Bernabei SM, Bigot S, Champion H, Daly A, Dassy M, Dawson S, Dixon M, Dokoupil K, Dubois S, Dunlop C, Evans S, Eyskens F, Faria A, Favre E, Ferguson C, Goncalves C, Gribben J, Heddrich-Ellerbrok M, Jankowski C, Janssen-Regelink R, Jouault C, Laguerre C, Le Verge S, Link R, Lowry S, Luyten K, Macdonald A, Maritz C, McDowell S, Meyer U, Micciche A, Robert M, Robertson LV, Rocha JC, Rohde C, Saruggia I, Sjoqvist E, Stafford J, Terry A, Thom R, Vande Kerckhove K, van Rijn M, van Teeffelen-Heithoff A, Wegberg Av, van Wyk K, Vasconcelos C, Vestergaard H, Webster D, White FJ, Wildgoose J, Zweers H.
- Molecular genetics and metabolism.Mol Genet Metab.2013 Dec;110(4):439-45. doi: 10.1016/j.ymgme.2013.09.003. Epub 2013 Sep 12.
- BACKGROUND: There is no published data comparing dietary management of urea cycle disorders (UCD) in different countries.METHODS: Cross-sectional data from 41 European Inherited Metabolic Disorder (IMD) centres (17 UK, 6 France, 5 Germany, 4 Belgium, 4 Portugal, 2 Netherlands, 1 Denmark, 1 Italy, 1
- PMID 24113687
Japanese Journal
- A Novel Stop Codon Mutation(X465Y) in the Argininosuccinate Lyase Gene in a Patient with Argininosuccinic Aciduria.
- The Tohoku Journal of Experimental Medicine 198(2), 119-124, 2002
- NAID 130004459206
- Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene
- J. Inherit. Metab. Dis. 23, 308-312, 2000
- NAID 30012217937
- Internallelic complementation in an inborn error of metabolism : genetic heterogeneity in argininosuccinate lyase deficiency
- Proc. Nat. Acad. Sci. USA 81, 4480-4484, 1984
- NAID 30016275852
Related Links
- Deficiency of argininosuccinate lyase (ASL), the enzyme that cleaves argininosuccinic acid to produce arginine and fumarate in the fourth step of the urea cycle, is characterized by a severe neonatal onset form and a late onset form.
- Argininosuccinate Lyase deficiency (ASLD) is the second most common UCD with a prevalence of ~1 in 70,000 live births. ASLD can manifest as either a severe neonatal onset form with hyperammonemia within the first few days ...
Related Pictures
★リンクテーブル★
| リンク元 | 「アルギニノコハク酸尿症」 |
| 関連記事 | 「deficiency」「argininosuccinate」「argininosuccinate lyase」 |
「アルギニノコハク酸尿症」
- 英
- argininosuccinic aciduria
- 同
- アルギニノコハク酸リアーゼ欠損症 argininosuccinate lyase deficiency、アルギニノスクシナーゼ欠損症 argininosuccinase deficiency
- 関
- アルギニノコハク酸
「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