Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

Author:

Cleary M. A.,Dorland L.,de Koning T. J.,Poll-The B. T.,Duran M.,Mandell R.,Shih V. E.,Berger R.,Olpin S. E.,Besley G. T. N.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference12 articles.

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.

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