1. Champion MP, Bird S, Fensom T, Dalton RN (2002) Ornithine aminotransferase deficiency (gyrate atrophy) presenting with hyperammonaemic encephalopathy. J Inherit Metab Dis 25 (Supplement 1): 29.
2. Cleary MA, Sivakumar P, Olpin S, et al (1999) Ornithine aminotransferase deficiency: difficulties in diagnosis in the neonatal period. J Inherit Metab Dis 22 (Supplement 1): 69.
3. Dorland L, Mandell R, Hemmes AM, et al (1999) A patient diagnosed as HHH without HH. J Inherit Metab Dis 22 (Supplement 1): 76.
4. Heinanen K, Nanto-Salonen K, Komu M, et al (1999) Creatine corrects muscle 31P spectrum in gyrate atrophy with hyperornithinaemia. Eur J Clin Invest 29: 1060–1065.
5. Mashima Y, Murakami A, Weleber RG, et al (1992) Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy. Am J Hum Genet 51: 81–91.