FAMILIAL HYPERPROLINEMIA. REPORT OF A SECOND CASE, ASSOCIATED WITH CONGENITAL RENAL MALFORMATIONS, HEREDITARY HEMATURIA AND MILD MENTAL RETARDATION, WITH DEMONSTRATION OF AN ENZYME DEFECT.
作者信息
EFRON M L
出版信息
N Engl J Med. 1965 Jun 17;272:1243-54. doi: 10.1056/NEJM196506172722401.