5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome

Author:

Divry P.,Roulaud-Parrot F.,Dorche C.,Zabot M. T.,Contraire B.,Hagenfeldt L.,Larsson A.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference11 articles.

1. Boivin, P., Saudubray, J. M., Pousset, J. L. and Galand, C. Glutathione synthetase deficiency and pyroglutamic aciduria.International Society of Haematology, Third Meeting of the European and African Division, London, 1975, Abstract nos. 1–20

2. Boivin, P., Galand, C. and Schaison, G. Déficit en glutathion-synthétase avec 5-oxoprolinurie, deux nouveaux cas et revue de la littérature.Nouv. Press. Méd. 7 (1978) 1531–1535

3. Carpenter, K., Bonham, J., Worthy, E., O'Connor, N., Gilbert, J., Primhak, R., Smith, M. Fatal neonatal pyroglutamic aciduria.Abstracts of the 28th Symposium of the SSIEM, Birmingham, September 1990, p. 28

4. Caruso, U., Romano, C., Cerone, R., Patrone, P., Perfumo, F., Schiaffino, M. C. and Gusmano, R. Pyroglutamic aciduria (5-oxoprolinuria): report of a new case.Fifth International Congress on Inborn Errors of Metabolism, Asilomar, June 1990, p. 8

5. Jellum, E., Kluge, T., Börresen, H. C., Stokke, O. and Eldjarn, L. Pyroglutamic aciduria — a new inborn error of metabolism.Scand. J. Clin. Lab. Invest. 26 (1970) 327–335

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