New renal tubular amino-acid transport system and a new hereditary disorder of amino-acid metabolism
CR Scriver, IA Schafer, ML Efron - Nature, 1961 - nature.com
CR Scriver, IA Schafer, ML Efron
Nature, 1961•nature.comWE 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.
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.
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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