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Carnitine-acylcarnitine translocase deficiency is a treatable disease.

作者信息

al Aqeel A I, Rashed M S, Wanders R J

机构信息

Department of Paediatrics, Riyadh Armed Forces Hospital, Kingdom of Saudi Arabia.

出版信息

J Inherit Metab Dis. 1999 May;22(3):271-5. doi: 10.1023/a:1005546408659.

DOI:10.1023/a:1005546408659
PMID:10384385
Abstract
摘要

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引用本文的文献

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Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System.伴有肌病的先天性代谢缺陷：脂肪酸氧化和肉碱穿梭系统缺陷
Pediatr Clin North Am. 2018 Apr;65(2):317-335. doi: 10.1016/j.pcl.2017.11.006. Epub 2017 Dec 28.
2
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry.通过串联质谱法筛查肉碱棕榈酰转移酶II缺乏症。
J Inherit Metab Dis. 2002 Feb;25(1):17-27. doi: 10.1023/a:1015109127986.

本文引用的文献

1
Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.线粒体肉碱-脂酰肉碱转位酶缺乏症表现为新生儿猝死。
J Pediatr. 1997 Aug;131(2):220-5. doi: 10.1016/s0022-3476(97)70157-4.
2
Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles.采用微孔板批量处理的电喷雾串联质谱法及用于自动标记异常图谱的计算机算法对血斑进行先天性代谢缺陷筛查。
Clin Chem. 1997 Jul;43(7):1129-41.
3
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.
J Inherit Metab Dis. 1996;19(2):181-4. doi: 10.1007/BF01799424.
4
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.伴有严重低血糖和房室传导阻滞的肉碱-酰基肉碱转位酶缺乏症。通透化成纤维细胞中的转位酶检测。
J Clin Invest. 1993 Mar;91(3):1247-52. doi: 10.1172/JCI116288.
5
Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry.利用自动电喷雾串联质谱法通过酰基肉碱和氨基酸谱分析从血斑诊断先天性代谢缺陷。
Pediatr Res. 1995 Sep;38(3):324-31. doi: 10.1203/00006450-199509000-00009.
6
Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase.
J Pediatr. 1995 Nov;127(5):723-8. doi: 10.1016/s0022-3476(95)70160-5.