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Literatur
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Zurück zum Zitat Maestri NE, Lord C, Glynn M et al (1998) The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency. Medicine (Baltimore) 77:389–397 Maestri NE, Lord C, Glynn M et al (1998) The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency. Medicine (Baltimore) 77:389–397
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Zurück zum Zitat Gyato K, Wray J, Huang ZJ et al (2004) Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. Ann Neurol 55:80–86 Gyato K, Wray J, Huang ZJ et al (2004) Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. Ann Neurol 55:80–86
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Zurück zum Zitat Gropman AL, Fricke ST, Seltzer RR et al (2008) 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency. Mol Genet Metab 95:21–30 Gropman AL, Fricke ST, Seltzer RR et al (2008) 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency. Mol Genet Metab 95:21–30
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Zurück zum Zitat Summar ML, Barr F, Dawling S et al (2005) Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin 21:S1–8 Summar ML, Barr F, Dawling S et al (2005) Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin 21:S1–8
Metadaten
Titel
Harnstoffzyklusstörungen
verfasst von
Prof. Dr. med. J. Häberle
Copyright-Jahr
2014
Verlag
Springer Berlin Heidelberg
DOI
https://doi.org/10.1007/978-3-642-45188-1_26

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