Prestes CC, Sgaravatti AM, Pederzolli CD, et al. Citrulline and ammonia accumulating in citrullinemia reduces antioxidant capacity of rat brain in vitro. Metab Brain Dis. 2006 Mar. 21(1):63-74. [QxMD MEDLINE Link].
Saheki T, Kobayashi K. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet. 2002. 47(7):333-41. [QxMD MEDLINE Link].
Saheki T, Song YZ, Adam MP, Ardinger HH, Pagon RA, Wallace SE, et al. Citrin Deficiency. 1993. [QxMD MEDLINE Link]. [Full Text].
Summar ML, Koelker S, Freedenberg D, et al. The incidence of urea cycle disorders. Mol Genet Biol. September-October 2013. 110:179-180. [QxMD MEDLINE Link].
Noto D, Takahashi K, Hamaguchi T, et al. A case of adult onset type II citrullinemia with portal-systemic shunt. J Neurol Sci. 2009 Mar 12. [QxMD MEDLINE Link].
Quinonez SC, Thoene JG, Adam MP, Ardinger HH, Pagon RA, Wallace SE, et al. Citrullinemia Type I. 1993. [QxMD MEDLINE Link]. [Full Text].
Waisbren SE, Cuthbertson D, Burgard P, Holbert A, McCarter R, Cederbaum S, et al. Biochemical markers and neuropsychological functioning in distal urea cycle disorders. J Inherit Metab Dis. 2018 Jul. 41 (4):657-667. [QxMD MEDLINE Link].
Yazaki M, Ikeda S, Kobayashi K, Saheki T. Therapeutic approaches for patients with adult-onset type II citrullinemia (CTLN2): effectiveness of treatment with low-carbohydrate diet and sodium pyruvate. Rinsho Shinkeigaku. 2010 Nov. 50(11):844-7. [QxMD MEDLINE Link].
Engel K, Hohne W, Haberle J. Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. Hum Mutat. 2009 Mar. 30(3):300-7. [QxMD MEDLINE Link].
Marquis-Nicholson R, Glamuzina E, Prosser D, Wilson C, Love DR. Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis. Genet Mol Res. 2010 Aug 3. 9(3):1483-9. [QxMD MEDLINE Link].
Diez-Fernandez C, Rüfenacht V, Häberle J. Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations. Hum Mutat. 2017 May. 38 (5):471-484. [QxMD MEDLINE Link].
Nagasaka H, Okano Y, Tsukahara H, et al. Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period. Mol Genet Metab. 2009 Jan 25. [QxMD MEDLINE Link].
Gunz AC, Choong K, Potter M, Miller E. Magnetic resonance imaging findings and neurodevelopmental outcomes in neonates with urea-cycle defects. Int Med Case Rep J. 2013 Aug 19. 6:41-8. [QxMD MEDLINE Link]. [Full Text].
Bireley WR, Van Hove JL, Gallagher RC, Fenton LZ. Urea cycle disorders: brain MRI and neurological outcome. Pediatr Radiol. 2012 Apr. 42(4):455-62. [QxMD MEDLINE Link].
Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML, et al. Urea Cycle Disorders Overview. 1993. [QxMD MEDLINE Link]. [Full Text].
Tarasenko N, Gomez-Rodriguez J, McGuire PJ. Impaired T cell function in argininosuccinate synthetase deficiency. J Leukoc Biol. February 2015. 97:273-278. [QxMD MEDLINE Link].
Vara R, Dhawan A, Deheragoda M, Grünewald S, Pierre G, Heaton ND, et al. Liver transplantation for neonatal-onset citrullinemia. Pediatr Transplant. 2018 Jun. 22 (4):e13191. [QxMD MEDLINE Link].
Kimura N, Kubo N, Narumi S, et al. Liver Transplantation Versus Conservative Treatment for Adult-Onset Type II Citrullinemia: Our Experience and a Review of the Literature. Transplant Proc. 2013 Nov. 45(9):3432-7. [QxMD MEDLINE Link].
Nakamura M, Yazaki M, Kobayashi Y, Fukushima K, Ikeda S, Kobayashi K, et al. The characteristics of food intake in patients with type II citrullinemia. J Nutr Sci Vitaminol (Tokyo). 2011. 57(3):239-45. [QxMD MEDLINE Link].
Berry GT, Steiner RD. Long-term management of patients with urea cycle disorders. J Pediatr. Jan 2001. 138(1 Pt 2):S56-S62. [QxMD MEDLINE Link].
Hayakawa M, Kato Y, Takahashi R, Tauchi N. Case of citrullinemia diagnosed by DNA analysis: including prenatal genetic diagnosis from amniocytes of next pregnancy. Pediatr Int. 2003 Apr. 45(2):196-8. [QxMD MEDLINE Link].
Issa AR, Yadav G, Teebi AS. Intrafamilial phenotypic variability in citrullinaemia: report of a family. J Inherit Metab Dis. 1988. 11(3):306-7. [QxMD MEDLINE Link].
Kennaway NG, Harwood PJ, Ramberg DA, Koler RD, Buist NR. Citrullinemia: enzymatic evidence for genetic heterogeneity. Pediatr Res. 1975 Jun. 9(6):554-8. [QxMD MEDLINE Link].
Kuhara H, Wakabayashi T, Kishimoto H, et al. Neonatal type of argininosuccinate synthetase deficiency. Report of two cases with autopsy findings. Acta Pathol Jpn. 1985 Jul. 35(4):995-1006. [QxMD MEDLINE Link].
Matsuda I, Anakura M, Arashima S, Saito Y, Oka Y. A variant form of citrullinemia. J Pediatr. 1976 May. 88(5):824-6. [QxMD MEDLINE Link].
Morrow G 3rd, Barness LA, Efron ML. Citrullinemia with defective urea production. Pediatrics. 1967 Oct. 40(4):565-74. [QxMD MEDLINE Link].
Ohura T, Kobayashi K, Tazawa Y, et al. Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). J Inherit Metab Dis. 2007 Apr. 30(2):139-44. [QxMD MEDLINE Link].
Saheki T, Kobayashi K, Iijima M, et al. Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier. Hepatol Res. 2005 Oct. 33(2):181-4. [QxMD MEDLINE Link].
Steiner RD, Cederbaum SD. Laboratory evaluation of urea cycle disorders. J Pediatr. 2001 Jan. 138(1 Suppl):S21-9. [QxMD MEDLINE Link].
Tamamori A, Fujimoto A, Okano Y, et al. Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency. Pediatr Res. 2004 Oct. 56(4):608-14. [QxMD MEDLINE Link].
Tazawa Y, Kobayashi K, Abukawa D, et al. Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients. Mol Genet Metab. 2004 Nov. 83(3):213-9. [QxMD MEDLINE Link].
Walter JH, Allen JT, Holton JB. Arginosuccinate synthetase deficiency: good outcome despite severe neonatal hyperammonemia. J Inherit Metab Dis. 1992. 15(2):282-3. [QxMD MEDLINE Link].