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
English Journal
- Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child.
- Inui A1, Hashimoto T1,2, Sogo T1, Komatsu H3, Saheki T4, Fujisawa T1.
- Hepatology research : the official journal of the Japan Society of Hepatology.Hepatol Res.2016 Apr;46(4):357-62. doi: 10.1111/hepr.12559. Epub 2015 Aug 18.
- Citrin deficiency manifests as both neonatal intrahepatic cholestasis (NICCD) during early infancy and adult-onset type II citrullinemia during adulthood. Hepatic steatosis is most frequently observed in patients with citrin deficiency. Thus, non-alcoholic fatty liver disease that is unrelated to be
- PMID 26190322
- NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.
- Wen W1, Yin D2,3, Huang F4, Guo M5, Tian T6,7, Zhu H8,9, Yang Y10,11,12.
- BMC medical genetics.BMC Med Genet.2016 Feb 3;17:9. doi: 10.1186/s12881-016-0273-7.
- BACKGROUND: Argininosuccinic aciduria (ASAuria; OMIM 207900) is a rare autosomal recessive heterogeneous urea cycle disorder, which leads to the accumulation of argininosuccinic acid in the blood and urine. We aimed to perform genetic test to the patient and help clinician to diagnose precisely.CASE
- PMID 26843370
- Argininosuccinic Aciduria-A Rare Indication for Liver Transplant: Report of Two Cases.
- Yankol Y1, Mecit N, Kanmaz T, Acarli K, Kalayoglu M.
- Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation.Exp Clin Transplant.2016 Jan 14. doi: 10.6002/ect.2015.0078. [Epub ahead of print]
- Argininosuccinic aciduria is a urea cycle disorder caused by an argininosuccinate lyase enzyme deficiency that ends with nitrogen accumulation as ammonia. Argininosuccinic aciduria patients are at risk for long-term complications including poor neurocognitive outcome, hepatic disease, and systemic h
- PMID 26768012
Japanese Journal
- Arginine therapy of argininosuccinase deficiency.
- Lancet 1, 124-127, 1979
- NAID 80013944224
Related Links
- #207900 Argininosuccinic aciduria (Argininosuccinase deficiency) (Argininosuccinate lyase deficiency) (ASL deficiency) (Arginiosuccinic acid lyase deficiency) アルギニノコハク酸尿症 (アルギニノサクシナーゼ欠損症) (アルギニノコハク酸 ...
- 1. Lancet. 1979 Jan 20;1(8108):124-7. Arginine therapy of argininosuccinase deficiency. Brusilow SW, Batshaw ML. Argininosuccinic acid (A.S.A.) contains the two waste nitrogen atoms later excreted in urea in healthy people, and it ...
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★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」「argininosuccinase」 |
「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