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citrullinaemia相关文献:
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
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
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
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
Severe neonatal citrullinaemia.
Danks DM, Tippett P, Zentner G.
Arch Dis Child. 1974 Jul;49(7):579-81. doi: 10.1136/adc.49.7.579.
PMID:4854268
Neonatal Citrullinaemia of Consanguineous Parents: An Experience from Sri Lanka.
Priyadarshani M, Wickramatilake CM, Ariyarathna C, Hapuarachchi GK, Gomez K, Jasinghe E.
Klin Padiatr. 2020 Feb 18. doi: 10.1055/a-1108-1629. Online ahead of print.
PMID:32069499
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
The therapeutic landscape of citrin deficiency.
Vuković T, Kuek LE, Yu B, Makris G, Häberle J.
J Inherit Metab Dis. 2024 Nov;47(6):1157-1174. doi: 10.1002/jimd.12768. Epub 2024 Jul 17.
PMID:39021261
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