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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients.

作者信息

Wanders R J, Ijlst L, Duran M, Jakobs C, de Klerk J B, Przyrembel H, Rocchiccioli F, Aubourg P

机构信息

Department of Paediatrics, University Hospital, Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 1991;14(3):325-8. doi: 10.1007/BF01811694.

DOI:10.1007/BF01811694
PMID:1770784
Abstract
摘要

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients.
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本文引用的文献

1
3-Hydroxyoctanoic aciduria: identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemia.3-羟基辛酸尿症：一名非酮症低血糖患者尿液中一种新有机酸的鉴定。
Clin Chim Acta. 1988 Jun 30;175(1):19-26. doi: 10.1016/0009-8981(88)90031-9.
2
Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?与周围神经病变、色素性视网膜病变及C6 - C14羟基二羧酸尿症相关的家族性低酮性低血糖症。脂肪酸氧化的一种新缺陷？
J Inherit Metab Dis. 1988;11 Suppl 2:183-5. doi: 10.1007/BF01804230.
3
The L-3-hydroxyacyl-CoA dehydrogenase deficiency.
Eur J Pediatr. 1994;153(7 Suppl 1):S49-56. doi: 10.1007/BF02138778.
4
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder.长链3-羟基酰基辅酶A脱氢酶缺乏症：一种严重的脂肪酸氧化障碍疾病。
Eur J Pediatr. 1994 Oct;153(10):745-50. doi: 10.1007/BF01954492.
5
Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.两个α亚基供体剪接位点突变导致人类三功能蛋白缺乏症。
J Clin Invest. 1995 May;95(5):2076-82. doi: 10.1172/JCI117894.
Prog Clin Biol Res. 1990;321:503-10.
4
A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities.一种具有酶活性缺陷的双功能蛋白：利用新型方法测量过氧化物酶体β-氧化酶活性鉴定一种新的过氧化物酶体疾病。
J Inherit Metab Dis. 1990;13(3):375-9. doi: 10.1007/BF01799399.
5
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation.长链3-羟基酰基辅酶A脱氢酶缺乏症：一种线粒体脂肪酸β-氧化先天性代谢缺陷的新发现。
J Inherit Metab Dis. 1990;13(3):311-4. doi: 10.1007/BF01799383.
6
3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment.因长链 3-羟基酰基辅酶 A 脱氢酶缺乏导致的 3-羟基二羧酸尿症与新生儿猝死相关：中链甘油三酯治疗的保护作用
Eur J Pediatr. 1991 Jan;150(3):190-5. doi: 10.1007/BF01963564.