2024-03-28T19:31:04Z
https://niigata-u.repo.nii.ac.jp/oai
oai:niigata-u.repo.nii.ac.jp:00023360
2022-12-15T03:53:36Z
453:456
471:537:538:1219
Congenital Metabolic Diseases as Perinatal Disorders(Current Care and Problems in Perinatal Period)
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)
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)
浅見, 直
140775
松井, 俊晴
140776
須田, 昌司
140777
congenital metabolic disease
galactosemia
hyperammonemia
perinatal disorder
先天性代謝異常症
ガラクトース血症
高アンモニア血症
周生期の異常
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.
departmental bulletin paper
新潟医学会
1988-08
application/pdf
新潟医学会雑誌
8
102
466
470
新潟医学会雑誌
AN00182415
00290440
https://niigata-u.repo.nii.ac.jp/record/23360/files/102(8)_466-470.pdf
jpn