Harnstoffzyklusstörungen

Brusilow S, Horwich A (2001) Urea cycle enzymes. In: Scriver C, Beaudet A, Sly W, Valle D (Hrsg) The metabolic & molecular bases of inherited disease. 8. Aufl. McGraw-Hill, New York, S1909–1963Google Scholar

Häberle J (2011) Varianten von Harnstoffzyklusstörungen. Monatsschr Kinderheilkunde 159:834–841Google Scholar

Häberle J, Boddaert N, Burlina A et al (2012) Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 7:32Google Scholar

Bachmann C (2003) Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation. Eur J Pediatr 162:410–416Google Scholar

Nassogne MC, Heron B, Touati G et al (2005) Urea cycle defects: management and outcome. J Inherit Metab Dis 28:407–414Google Scholar

Msall M, Batshaw ML, Suss R et al (1984) Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. N Engl J Med 310:1500–1505Google Scholar

Maestri NE, Lord C, Glynn M et al (1998) The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency. Medicine (Baltimore) 77:389–397Google Scholar

Gyato K, Wray J, Huang ZJ et al (2004) Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. Ann Neurol 55:80–86Google Scholar

Gropman AL, Fricke ST, Seltzer RR et al (2008) 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency. Mol Genet Metab 95:21–30Google Scholar

Summar ML, Barr F, Dawling S et al (2005) Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin 21:S1–8Google Scholar