首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
Pubmed相关的文献
citrullinaemia相关文献:
Hyperammonemia in review: pathophysiology, diagnosis, and treatment.
Auron A, Brophy PD.
Pediatr Nephrol. 2012 Feb;27(2):207-22. doi: 10.1007/s00467-011-1838-5. Epub 2011 Mar 23.
PMID:21431427
Citrullinaemia in Friesian calves.
Thornton RN, Gilmour ML, Rammel CA.
N Z Vet J. 1991 Dec;39(4):145-6. doi: 10.1080/00480169.1991.35682.
PMID:16031642
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group.
Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30.
PMID:31469252
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
Diez-Fernandez C, Rüfenacht V, Häberle J.
Hum Mutat. 2017 May;38(5):471-484. doi: 10.1002/humu.23184. Epub 2017 Feb 15.
PMID:28111830
Prenatal diagnosis of bovine citrullinaemia.
Healy P, Dennis J, Rawlinson R, Andersson L.
Res Vet Sci. 1993 Nov;55(3):271-4. doi: 10.1016/0034-5288(93)90093-u.
PMID:8284487
Hypomorphic citrullinaemia due to mutated ASS1 with episodic ataxia.
Saini AG, Attri S, Sankhyan N, Singhi P.
BMJ Case Rep. 2018 Apr 25;2018:bcr2017220193. doi: 10.1136/bcr-2017-220193.
PMID:29695388
Neonatal screening for citrullinaemia.
Sander J, Janzen N, Sander S, Steuerwald U, Das AM, Scholl S, Trefz FK, Koch HG, Häberle J, Korall H, Marquardt I, Korenke C.
Eur J Pediatr. 2003 Jun;162(6):417-20. doi: 10.1007/s00431-003-1177-z. Epub 2003 Apr 8.
PMID:12684898
Citrullinaemia type I: a common mutation in the Pacific Island population.
Glamuzina E, Marquis-Nicholson R, Knoll D, Love DR, Wilson C.
J Paediatr Child Health. 2011 May;47(5):262-5. doi: 10.1111/j.1440-1754.2010.01948.x. Epub 2011 Jan 18.
PMID:21244552
Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia.
Chen P, Gao X, Chen B, Zhang Y.
Open Med (Wars). 2021 Mar 23;16(1):455-458. doi: 10.1515/med-2021-0235. eCollection 2021.
PMID:33817322
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
Lin WX, Zeng HS, Zhang ZH, Mao M, Zheng QQ, Zhao ST, Cheng Y, Chen FP, Wen WR, Song YZ.
Sci Rep. 2016 Jul 11;6:29732. doi: 10.1038/srep29732.
PMID:27405544
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3