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124 related items for PubMed ID: 1594374
21. Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency. Sijens PE, Reijngoud DJ, Soorani-Lunsing RJ, Oudkerk M, van Spronsen FJ. Mol Genet Metab; 2006 May; 88(1):100-2. PubMed ID: 16343968 [Abstract] [Full Text] [Related]
22. Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation. von Wendt L, Similä S, Ruokonen A, Puukka M. Ann Clin Res; 1982 Jun; 14(3):145-7. PubMed ID: 7137886 [Abstract] [Full Text] [Related]
23. High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment? van Spronsen FJ, Reijngoud DJ, Verhoeven NM, Soorani-Lunsing RJ, Jakobs C, Sijens PE. Mol Genet Metab; 2006 Nov; 89(3):274-6. PubMed ID: 16580861 [Abstract] [Full Text] [Related]
24. Urea cycle disorders in Thai infants: a report of 5 cases. Wasant P, Srisomsap C, Liammongkolkul S, Svasti J. J Med Assoc Thai; 2002 Aug; 85 Suppl 2():S720-31. PubMed ID: 12403252 [Abstract] [Full Text] [Related]
27. [Long-term results in children with classical galactosemia]. Scheibenreiter S, Knoll E, Widhalm K. Wien Klin Wochenschr; 1992 Aug; 104(16):514-7. PubMed ID: 1413810 [Abstract] [Full Text] [Related]
35. [Aciduria argininosuccínica: informe de un caso de inicio neonatal]. P Zuza M, Gerbaudo G, O Molina S, Pereyra M. Arch Argent Pediatr; 2021 Oct; 119(5):e508-e512. PubMed ID: 34569752 [Abstract] [Full Text] [Related]
36. [Argininosuccinic aciduria. Comparative studies and detection of carriers in 3 affected families]. Briones Godino P, Rodes Monegal M, Vilaseca Busca MA, Maya Victoria A, Lizárraga Vidaurreta I, Barbero Aguirre P, Pascual Castroviejo I. An Esp Pediatr; 1988 Jan; 28(1):49-54. PubMed ID: 3279887 [Abstract] [Full Text] [Related]
37. Physical and intellectual development in children with asymptomatic congenital cytomegalovirus infection: a longitudinal cohort study in Qinba mountain area, China. Zhang XW, Li F, Yu XW, Shi XW, Shi J, Zhang JP. J Clin Virol; 2007 Nov; 40(3):180-5. PubMed ID: 17919973 [Abstract] [Full Text] [Related]