CPSI欠損症
WordNet
- the 3rd letter of the Roman alphabet (同)c
- (music) the keynote of the scale of C major
- a general-purpose programing language closely associated with the UNIX operating system
- the 9th letter of the Roman alphabet (同)i
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
- carbonの化学記号
- 『私は』私が
- iodineの化学記号
- =Communist Party
UpToDate Contents
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English Journal
- Teaching NeuroImages: MRI findings in carbamoyl phosphate synthetase 1 deficiency.
- Nunley S1, Ghosh D2.
- Neurology.Neurology.2015 May 5;84(18):e138-9. doi: 10.1212/WNL.0000000000001546.
- PMID 25941206
- Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.
- Hu L1, Diez-Fernandez C2, Rüfenacht V3, Hismi BÖ4, Ünal Ö5, Soyucen E6, Çoker M7, Bayraktar BT8, Gunduz M9, Kiykim E10, Olgac A11, Pérez-Tur J12, Rubio V13, Häberle J14.
- Molecular genetics and metabolism.Mol Genet Metab.2014 Dec;113(4):267-73. doi: 10.1016/j.ymgme.2014.09.014. Epub 2014 Oct 7.
- Carbamoyl phosphate synthetase 1 (CPS1) deficiency due to CPS1 mutations is a rare autosomal-recessive urea cycle disorder causing hyperammonemia that can lead to death or severe neurological impairment. CPS1 catalyzes carbamoyl phosphate formation from ammonia, bicarbonate and two molecules of ATP,
- PMID 25410056
- Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.
- Ah Mew N1, McCarter R2, Daikhin Y3, Lichter-Konecki U1, Nissim I3, Yudkoff M3, Tuchman M4.
- The Journal of pediatrics.J Pediatr.2014 Aug;165(2):401-403.e3. doi: 10.1016/j.jpeds.2014.04.012. Epub 2014 May 29.
- Identical studies using stable isotopes were performed before and after a 3-day trial of oral N-carbamyl-l-glutamate (NCG) in 5 subjects with late-onset carbamyl phosphate synthetase deficiency. NCG augmented ureagenesis and decreased plasma ammonia in 4 of 5 subjects. There was marked improvement i
- PMID 24880889
Japanese Journal
- 生後5か月で生体肝移植を施行したカルバミルリン酸合成酵素1欠損症の1例
- 河野 智敬,会津 克哉,清水 健司 [他],大橋 博文,藤永 周一郎,水田 耕一,望月 弘
- 日本小児科学会雑誌 116(7), 1118-1122, 2012-07-01
- NAID 10030801343
- ポリスチレンスルホン酸カルシウム内服中に直腸穿孔を発症した腹膜透析患者の1例
- 小林 和裕,井上 勉,池田 直史 [他],鈴木 洋通,伴 慎一
- 日本透析医学会雑誌 = Journal of Japanese Society for Dialysis Therapy 41(3), 199-205, 2008-03-28
- … ポリスチレンスルホン酸カルシウム（calcium polystyrene sulfonate：CPS）は急性および慢性腎不全による高カリウム血症の治療に用いられる陽イオン交換樹脂の一つである．CPSの副作用としては便秘がよく知られており下剤が併用されることが多い．またソルビトールを懸濁に用いた症例で腸管の潰瘍・壊死・穿孔が報告され添付文書にもソルビトールによる懸濁を行わないことと記載されている．一方で …
- NAID 10023973916
- Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency
- Kurokawa Keiji,Yorifuji Tohru,Kawai Masahiko [他]
- Journal of Human Genetics 52(4), 349-354, 2007
- NAID 40015324793
Related Links
- Carbamoyl phosphate synthetase (CPS) deficiency is a urea cycle defect that results from a deficiency in an enzyme that mediates the normal path for incorporation of ammonia. CPS is derived from catabolism of amino ...
- Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic ...
★リンクテーブル★
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- 英
- CPS I deficiency
- 関
- カルバモイルリン酸シンターゼI欠損症
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- 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
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