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citrullinaemia相关文献:
Citrin Deficiency: Clinical and Nutritional Features.
Komatsu M, Tanaka N, Kimura T, Yazaki M.
Nutrients. 2023 May 12;15(10):2284. doi: 10.3390/nu15102284.
PMID:37242166
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
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S, Lacabanne D, Thangaratnarajah C, Kunji ERS.
Trends Endocrinol Metab. 2022 Aug;33(8):539-553. doi: 10.1016/j.tem.2022.05.002. Epub 2022 Jun 17.
PMID:35725541
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
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 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
[CITRULLINURIA].
FREYCON F, FREYCON MT.
Pediatrie. 1963;18:847-9.
PMID:14106631
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
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