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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
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
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
[CITRULLINURIA].
FREYCON F, FREYCON MT.
Pediatrie. 1963;18:847-9.
PMID:14106631
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
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
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
CITRULLINURIA.
MCMURRAY WC, RATHBUN JC, MOHYUDDIN F, KOEGLER SJ.
Pediatrics. 1963 Sep;32:347-57.
PMID:14063512
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