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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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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