Abstract
WE have investigated the metabolism of amino-acid in a kindred with familial nephritis and deafness. Renal hypoplasia and photogenic epilepsy, both familial, and a third independent familial disorder affecting L-proline metabolism were also found in this kindred. Familial nephropathy with deafness was recently reviewed1, but its occurrence with these disorders was not described.
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References
Marie, J., et al., Annales de Pediatrie, 36, 84 (1960).
Dent, C. E., in Recent Advances in Clinical Pathology, second ed., 238 (Churchill, 1951).
Efron, M. L., Biochem. J., 72, 691 (1959).
Moore, S., and Stein, W. H., J. Biol. Chem., 211, 893 (1954).
Moore, S., Spackman, D., and Stein, W. H., Anal. Chem., 30, 1185 (1958).
Cusworth, D. C., and Dent, C. E., Biochem. J., 74, 550 (1960).
Efron, M. L., and Scriver, C. R. (unpublished results).
Jagenburg, O. R., Scand. J. Clin. Lab. Invest., 11, Supp. 43 (1959).
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SCRIVER, C., SCHAFER, I. & EFRON, M. New Renal Tubular Amino-Acid Transport System and a New Hereditary Disorder of Amino-Acid Metabolism. Nature 192, 672–673 (1961). https://doi.org/10.1038/192672a0
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DOI: https://doi.org/10.1038/192672a0
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