@article{oai:niigata-u.repo.nii.ac.jp:00023360, author = {浅見, 直 and 松井, 俊晴 and 須田, 昌司}, issue = {8}, journal = {新潟医学会雑誌, 新潟医学会雑誌}, month = {Aug}, note = {More than 350 kinds of congenital metabolic diseases are described in the pediatric textbook by Nelson. During the past fifteen years, we have found 81 patients with 15 kinds of congenital metabolic diseases. In these 81 patients, only 3 patients (congenital urea cycle enzyme deficiency and galactosemia) presented with abnormal signs and symptoms such as vomiting, failure to thrive or hyperammonemia in perinatal period. Although the incidence of congenital metabolic diseases presenting with abnormal signs and symptoms early in perinatal period is very low, early detection and treatment are important for preventing fatal outcome or abnormal neurological sequeles.}, pages = {466--470}, title = {4) 周生期異常としての先天性代謝異常症(シンポジウム 周産期をめぐる諸問題, 第432回新潟医学会)}, volume = {102}, year = {1988} }