Author:
Rüegger Corinne M.,Lindner Martin,Ballhausen Diana,Baumgartner Matthias R.,Beblo Skadi,Das Anibh,Gautschi Matthias,Glahn Esther M.,Grünert Sarah C.,Hennermann Julia,Hochuli Michel,Huemer Martina,Karall Daniela,Kölker Stefan,Lachmann Robin H.,Lotz-Havla Amelie,Möslinger Dorothea,Nuoffer Jean-Marc,Plecko Barbara,Rutsch Frank,Santer René,Spiekerkoetter Ute,Staufner Christian,Stricker Tamar,Wijburg Frits A.,Williams Monique,Burgard Peter,Häberle Johannes
Subject
Genetics(clinical),Genetics
Reference41 articles.
1. Bachmann C (2002) Mechanisms of hyperammonemia. Clin Chem Lab Med 40:653–662
2. Berning C, Bieger I, Pauli S et al (2008) Investigation of citrullinemia type I variants by in vitro expression studies. Hum Mutat 29:1222–1227
3. Bogdanovic MD, Kidd D, Briddon A, Duncan JS, Land JM (2000) Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus. J Neurol Neurosurg Psychiatry 69:813–815
4. Brusilow SW (1984) Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis. J Clin Invest 74:2144–2148
5. Brusilow S, Horwich A (2001) Urea cycle enzymes. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic & molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1909–1963
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