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1. ヘキソースリン酸側路およびグルタチオン代謝疾患（グルコース-6-リン酸脱水素酵素欠損症を除く） disorders of the hexose monophosphate shunt and glutathione metabolism other than glucose 6 phosphate dehydrogenase deficiency
2. 尿素サイクル障害：管理 urea cycle disorders management
3. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
4. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies
5. 免疫不全症を引き起こすミエロペルオキシダーゼ欠損症および酵素白血球欠損症 myeloperoxidase deficiency and other enzymatic wbc defects causing immunodeficiency

Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function.

Díez-Fernández C1, Hu L2, Cervera J3, Häberle J4, Rubio V5.
Molecular genetics and metabolism.Mol Genet Metab.2014 Jun;112(2):123-32. doi: 10.1016/j.ymgme.2014.04.003. Epub 2014 Apr 18.
Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an inborn error of the urea cycle that is due to mutations in the CPS1 gene. In the first large repertory of mutations found in CPS1D, a small CPS1 domain of unknown function (called the UFSD) was found to host missense changes with high frequen
PMID 24813853

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

Genome-wide association study identifies 3 genomic loci significantly associated with serum levels of homoarginine: the AtheroRemo Consortium.

Kleber ME, Seppälä I, Pilz S, Hoffmann MM, Tomaschitz A, Oksala N, Raitoharju E, Lyytikäinen LP, Mäkelä KM, Laaksonen R, Kähönen M, Raitakari OT, Huang J, Kienreich K, Fahrleitner-Pammer A, Drechsler C, Krane V, Boehm BO, Koenig W, Wanner C, Lehtimäki T, März W, Meinitzer A.
Circulation. Cardiovascular genetics.Circ Cardiovasc Genet.2013 Oct;6(5):505-13. doi: 10.1161/CIRCGENETICS.113.000108. Epub 2013 Sep 18.
BACKGROUND: Low serum levels of the amino acid derivative, homoarginine, have been associated with increased risk of total and cardiovascular mortality. Homoarginine deficiency may be related to renal and heart diseases, but the pathophysiologic role of homoarginine and the genetic regulation of its
PMID 24047826

A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age

ONO Hiroaki,SUTO Tetsushi,KINOSHITA Yoshihisa,SAKANO Takashi,FURUE Takeki,OHTA Toshiyuki
Brain & development 31(10), 779-781, 2009-11-01
NAID 10026413113

佐伯武頼
ビタミン 78(11), 545-554, 2004-11-20
カルニチンは, 発見当初, ビタミンBTと称されたが, 生体内で合成されるので, ビタミンではないとされた. しかし, 厳格な菜食主義者やカルニチンを含まないミルクを投与された乳児では血中のカルニチンは低下する. 老齢者ではカルニチン投与の効果が報告されている. また, さまざまな病態で血中濃度が低下し, 薬理作用を含め, カルニチンには多彩な機能が想定されている. 基本的には, カルニチンの機能 …
NAID 110002880350