Arginase deficiency presenting with convulsions.
作者信息
Patel J S, van't Hoff W V, Leonard J V
机构信息
Institute of Child Health, London.
出版信息
J Inherit Metab Dis. 1994;17(2):254. doi: 10.1007/BF00711633.
PMID:7967487
Abstract
摘要
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Arginase deficiency presenting with convulsions.以惊厥为表现的精氨酸酶缺乏症。
J Inherit Metab Dis. 1994;17(2):254. doi: 10.1007/BF00711633.
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Periodic hyperammonemia, hyperlysinemia, and homocitrullinuria associated with decreased argininosuccinate synthetase and arginase activities.与精氨琥珀酸合成酶和精氨酸酶活性降低相关的周期性高氨血症、高赖氨酸血症和高瓜氨酸尿症。
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Arginase deficiency in two brothers.两兄弟精氨酸酶缺乏症。
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[Hyperargininemia with arginase deficiency. A new familial metabolic disease. II. Biochemical studies].[精氨酸酶缺乏所致高精氨酸血症。一种新的家族性代谢疾病。II. 生化研究]
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Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet.采用特定成分饮食治疗因精氨酸酶缺乏导致的高精氨酸血症。
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Neurological deterioration in patients with urea cycle disorders under valproate therapy--a cause for concern.
Eur J Pediatr. 1995 Jul;154(7):593-4. doi: 10.1007/BF02074851.
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Arginase deficiency presenting as cerebral palsy.
Pediatrics. 1993 May;91(5):995-6.
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