Published in SAGE Open Med Case Rep on July 31, 2014
Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv Pediatr (1996) 3.13
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr (2008) 1.86
Ornithine transcarbamylase deficiency: a urea cycle defect. Eur J Paediatr Neurol (2003) 1.81
Contrasting features of urea cycle disorders in human patients and knockout mouse models. Mol Genet Metab (2007) 1.04
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia. Hum Mutat (1996) 0.93
Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile. Pediatr Int (2006) 0.93
Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency. Intensive Care Med (2008) 0.91
Brain imaging in urea cycle disorders. Mol Genet Metab (2010) 0.86
Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation. JIMD Rep (2012) 0.85
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency. Hum Mutat (1999) 0.84
Encephalopathy from acute liver failure and from acute hyperammonemia in the rabbit. A clinical and biochemical study. Liver (1994) 0.80
Variations in plasma amino acids in septic patients subjected to parenteral nutrition with a high proportion of branched-chain amino acids. Nutrition (1992) 0.80