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
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
- cobaltの化学記号
UpToDate Contents
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- 1. 脂質およびプリン代謝障害による代謝性ミオパチー metabolic myopathies caused by disorders of lipid and purine metabolism
- 2. ペルオキシソーム病 peroxisomal disorders
- 3. 遺伝性運動失調の概要 overview of the hereditary ataxias
- 4. HELLP症候群 hellp syndrome
- 5. 水溶性ビタミンの概要 overview of water soluble vitamins
English Journal
- A novel mutation (c.121‑13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene.
- Aoyama Y1, Sasai H1, Abdelkreem E1, Otsuka H1, Nakama M2, Kumar S3, Aroor S3, Shukla A4, Fukao T1.
- Molecular medicine reports.Mol Med Rep.2017 Jun;15(6):3879-3884. doi: 10.3892/mmr.2017.6434. Epub 2017 Apr 4.
- PMID 28393214
- Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
- Paquay S1,2, Bourillon A3, Pichard S1, Benoist JF3, de Lonlay P4,5, Dobbelaere D6, Fouilhoux A7, Guffon N7, Rouvet I8, Labarthe F9, Mention K6, Touati G10, Valayannopoulos V4,11, Ogier de Baulny H1, Elmaleh-Bergès M12, Acquaviva-Bourdain C13, Vianey-Saban C13, Schiff M14,15.
- Journal of inherited metabolic disease.J Inherit Metab Dis.2017 May;40(3):415-422. doi: 10.1007/s10545-017-0021-y. Epub 2017 Mar 2.
- PMID 28255778
- Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene.
- Sasai H1, Aoyama Y2, Otsuka H1, Abdelkreem E3, Nakama M4, Hori T1, Ohnishi H1, Turner L5, Fukao T6.
- Molecular genetics & genomic medicine.Mol Genet Genomic Med.2017 Feb 8;5(2):177-184. doi: 10.1002/mgg3.275. eCollection 2017 Mar.
- PMID 28361105
Japanese Journal
- Different Clinical Presentation in Siblings with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency and Identification of Two Novel Mutations
- Tohoku journal of experimental medicine 220(1), 27-31, 2010-01-01
- NAID 10027082920
- 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency : impaired catabolism of isoleucine presenting as neurodegenerative disease
- Brain & development 26(1), 12-14, 2004-01-01
- NAID 10013565726
- Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency : T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA
- Pediatr. Res. 56, 60-64, 2004
- NAID 30024079552
Related Links
- Cytosolic acetoacetyl-CoA thiolase deficiency symptoms, causes, diagnosis, and treatment information for Cytosolic acetoacetyl-CoA thiolase deficiency (Acetyl-coa acetyltransferase 2 deficiency) with alternative diagnoses, full-text ...
- Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones ...
Related Pictures
★リンクテーブル★
| リンク元 | 「βケトチオラーゼ欠損症」 |
| 関連記事 | 「deficiency」「C」「CoA」「COA」「Co」 |
「βケトチオラーゼ欠損症」
「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
「C」
- 炭素 carbon
- シトシン cytosine
- システイン cysteine
- シチジン
- セルシウス度 摂氏 degrees Celsius degree C
- 産婦人科領域で「子宮外頚 子宮外頚部 exocervix」を表現するための略語