Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency

Author:

Gessler Peter,Buchal Peter,Schwenk Hans U.,Wermuth Bendicht

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference15 articles.

1. Batshaw ML, MacArthur RB, Tuchman M (2001) Alternative pathway therapy for urea cycle disorders: twenty years later. J Pediatr 138:S46–S55. doi: 10.1067/mpd.2001.111836

2. Brusilow SW, Horwich AL (2001) Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1909–1963

3. Caldovic L, Morizono H, Daikhin Y et al (2004) Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. J Pediatr 145:552–554. doi: 10.1016/j.jpeds.2004.06.047

4. Caldovic L, Morizono H, Tuchman M (2007) Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene. Hum Mutat 28:754–759. doi: 10.1002/humu.20518

5. Colombo JP, Krähenbühl S, Bachmann C, Aeberhard P (1982) N-Acetylglutamate synthetase: enzyme assay in human liver. J Clin Chem Clin Biochem 20:325–229

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