Free amino acid concentrations in blood cells of two brothers with gyrate atrophy of the choroid and retina with hyperornithinaemia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF02310866
Reference15 articles.
1. Berson, E. L., Schmidt, S. Y. and Rabin, A. R. Plasma aminoacids in hereditary retinal disease: ornithine, lysine and taurine.Br. J. Ophthalmol. 60 (1976) 142–147
2. Fukuda, K., Hirai, Y., Yoshida, H., Nakajima, T. and Usui, T. Free amino acid content of lymphocytes and granulocytes compared.Clin. Chem. 28 (1982) 1758–1761
3. Houpert, Y., Tarallo, P. and Siest, G. Quantitative determination of granulocytic amino acids in healthy men and women.Clin. Chim. Acta 69 (1976) 383–386
4. Kaiser-Kupfer, M. I., Valle, D. and Valle, L. A. D. A specific enzyme defect in gyrate atrophy.Am. J. Ophthalmol. 85 (1978) 200–204
5. McCulloch, C. and Marliss, E. B. Gyrate atrophy of the choroid and retina with hyperornithinemia.Am. J. Ophthalmol. 80 (1975) 1047–1057.
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4. Diagnostik angeborener Aminoazidopathien durch phänotypische Merkmale (Urin- oder Körpergerüche, Haut-, Haare-, Augensymptome oder Skelettveränderungen);Klinische Pädiatrie;1989-11
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