致畸性先天性代谢缺陷。
Teratogenic inborn errors of metabolism.
作者信息
Leonard J V
出版信息
Postgrad Med J. 1986 Feb;62(724):125-9. doi: 10.1136/pgmj.62.724.125.
Abstract
Most children with inborn errors of metabolism are born healthy without malformations as the fetus is protected by the metabolic activity of the placenta. However, certain inborn errors of the fetus have teratogenic effects although the mechanisms responsible for the malformations are not generally understood. Inborn errors in the mother may also be teratogenic. The adverse effects of these may be reduced by improved metabolic control of the biochemical disorder.
摘要
大多数患有先天性代谢缺陷的儿童出生时是健康的，没有畸形，因为胎儿受到胎盘代谢活动的保护。然而，某些胎儿先天性代谢缺陷具有致畸作用，尽管导致畸形的机制通常尚不清楚。母亲的先天性代谢缺陷也可能具有致畸性。改善对生化紊乱的代谢控制可能会减少这些不良影响。
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本文引用的文献
1
A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS.一种多发性先天性缺陷的家族综合征。
Bull Johns Hopkins Hosp. 1964 Jun;114:402-14.
2
CONGENITAL MALFORMATIONS IN NEWBORN INFANTS OF DIABETIC WOMEN. CORRELATION WITH MATERNAL DIABETIC VASCULAR COMPLICATIONS.糖尿病女性新生儿的先天性畸形。与母体糖尿病血管并发症的相关性。
Lancet. 1964 May 23;1(7343):1124-6. doi: 10.1016/s0140-6736(64)91805-7.
3
Liver in the cerebro-hepato-renal syndrome: defective bile acid synthesis and abnormal mitochondria.脑肝肾综合征中的肝脏：胆汁酸合成缺陷与线粒体异常
Gastroenterology. 1980 Dec;79(6):1311-7.
4
Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies.母体苯丙酮尿症和高苯丙氨酸血症。未经治疗和经治疗妊娠结局的国际调查。
N Engl J Med. 1980 Nov 20;303(21):1202-8. doi: 10.1056/NEJM198011203032104.
5
Glutaric aciduria Type II.II型戊二酸尿症
J Pediatr. 1980 Jun;96(6):1020-6. doi: 10.1016/s0022-3476(80)80629-9.
6
Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency.鸟氨酸转氨甲酰酶缺乏症无症状携带者的脑功能障碍
N Engl J Med. 1980 Feb 28;302(9):482-5. doi: 10.1056/NEJM198002283020902.
7
8
Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings.两兄弟患多种酰基辅酶A脱氢酶缺乏症（II型戊二酸尿症）、先天性多囊肾和大脑皮质对称性疣状发育异常。I. 临床、代谢和生化检查结果
Eur J Pediatr. 1982 Sep;139(1):56-9. doi: 10.1007/BF00442081.
9
Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients.泽尔韦格脑肝肾综合征：16例患者的临床症状及相关实验室检查结果
Eur J Pediatr. 1982 Oct;139(2):125-8. doi: 10.1007/BF00441495.
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