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Medium-chain acyl-CoA dehydrogenase deficiency.

作者信息

Stanley C A, Hale D E, Coates P M

机构信息

Endocrine/Diabetes Division, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia 19104.

出版信息

Prog Clin Biol Res. 1990;321:291-302.

PMID:2183236
Abstract
摘要

相似文献

1
Medium-chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症
Prog Clin Biol Res. 1990;321:291-302.
2
Assay of acyl-CoA dehydrogenases in muscle and liver and identification of four new cases of medium-chain acyl-CoA dehydrogenase deficiency associated with systemic carnitine deficiency.肌肉和肝脏中酰基辅酶A脱氢酶的检测以及4例与全身性肉碱缺乏相关的新的中链酰基辅酶A脱氢酶缺乏症病例的鉴定。
Adv Neurol. 1988;48:231-7.
3
[Medium-chain acyl-CoA dehydrogenase deficiency].[中链酰基辅酶A脱氢酶缺乏症]
Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):414-6.
4
[Medium chain acyl-CoA dehydrogenase deficiency].[中链酰基辅酶A脱氢酶缺乏症]
Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):560-3.
5
Acylcarnitines in the urine of a patient with medium chain acyl-CoA dehydrogenase (MCAD) deficiency and in normal children.患有中链酰基辅酶A脱氢酶（MCAD）缺乏症的患者尿液中的酰基肉碱以及正常儿童尿液中的酰基肉碱。
Prog Clin Biol Res. 1990;321:403-9.
6
[Medium-chain acyl-CoA dehydrogenase deficiency].[中链酰基辅酶A脱氢酶缺乏症]
Ryoikibetsu Shokogun Shirizu. 2001(36):68-70.
7
[Medium chain acyl-CoA dehydrogenase deficiency. Apropos of a case with demonstration of this enzyme deficiency].[中链酰基辅酶A脱氢酶缺乏症。关于一例证实该酶缺乏的病例]
Pediatrie. 1984 Dec;39(8):661-8.
8
Mutations causing medium-chain acyl-CoA dehydrogenase deficiency: a collaborative compilation of the data from 172 patients. Workshop on Molecular Aspects of MCAD Deficiency.导致中链酰基辅酶A脱氢酶缺乏症的突变：172例患者数据的协作汇编。中链酰基辅酶A脱氢酶缺乏症分子层面研讨会。
Prog Clin Biol Res. 1992;375:499-506.
9
The molecular basis of medium chain acyl-CoA dehydrogenase deficiency: survey and evolution of 985A----G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene.中链酰基辅酶A脱氢酶缺乏症的分子基础：985A→G转变的研究与演变，以及中链酰基辅酶A脱氢酶基因内五种罕见突变类型的鉴定。
Prog Clin Biol Res. 1992;375:425-40.
10
Characterization of medium-chain acyl-CoA dehydrogenase (MCAD) with a point mutation associated with MCAD deficiency.
Prog Clin Biol Res. 1992;375:473-8.

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