A new case of succinyl-CoA:acetoacetate transferase deficiency: favourable course despite very low residual activity.

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作者信息

Barić I, Sarnavka V, Fumić K, Maradin M, Begović D, Ruiter J P, Wanders R J

机构信息

Department of Pediatrics, University Hospital Center, Zagreb, Croatia.

出版信息

J Inherit Metab Dis. 2001 Feb;24(1):81-2. doi: 10.1023/a:1005671109585.

DOI:10.1023/a:1005671109585

PMID:11286388

Abstract

摘要

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本文引用的文献

Succinyl-CoA:3-ketoacid CoA-transferase deficiency.

Pediatrics. 1998 Apr;101(4 Pt 1):709-11. doi: 10.1542/peds.101.4.709.

Eur J Pediatr. 1997 Nov;156(11):870-3. doi: 10.1007/s004310050733.

Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy.琥珀酰辅酶A：3-酮酸辅酶A转移酶缺乏症。婴儿期酮症酸中毒的一个病因。

J Clin Invest. 1972 Mar;51(3):493-8. doi: 10.1172/JCI106837.

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