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.
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.
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.
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.
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.
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.
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.
Living Donor Liver Transplantation in a Paediatric Patient With Citrullinaemia Type 2.
Maharaj R, Kota V, Singh B, Kapoor D, Nageswara Rao PB, Moode J, Dekate J, Nathani P.
J Clin Exp Hepatol. 2020 Sep-Oct;10(5):525-528. doi: 10.1016/j.jceh.2019.12.006. Epub 2020 Jan 7.
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.
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.
