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Folinic acid responsive seizures: a new syndrome?

作者信息

Hyland K, Buist N R, Powell B R, Hoffman G F, Rating D, McGrath J, Acworth I N

机构信息

Baylor Research Institute, Metabolic Disease Center, Dallas, Texas 75226, USA.

出版信息

J Inherit Metab Dis. 1995;18(2):177-81. doi: 10.1007/BF00711760.

DOI:10.1007/BF00711760
PMID:7564240
Abstract
摘要

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Impact of predictive, preventive and precision medicine strategies in epilepsy.

本文引用的文献

1
Electrochemical activity of o-phthalaldehyde-mercaptoethanol derivatives of amino acids. Application to high-performance liquid chromatographic determination of amino acids in plasma and other biological materials.氨基酸的邻苯二甲醛-巯基乙醇衍生物的电化学活性。应用于高效液相色谱法测定血浆及其他生物材料中的氨基酸。
J Chromatogr. 1983 Oct 14;277:125-36.
2
n-Electrode three-dimensional liquid chromatography with electrochemical detection for determination of neurotransmitters.用于测定神经递质的带电化学检测的n电极三维液相色谱法。
Clin Chem. 1984 Sep;30(9):1477-88.
3
Measurement of total plasma and cerebrospinal fluid homocysteine by fluorescence following high-performance liquid chromatography and precolumn derivatization with o-phthaldialdehyde.
预测、预防和精准医学策略在癫痫中的影响。
Nat Rev Neurol. 2020 Dec;16(12):674-688. doi: 10.1038/s41582-020-0409-4. Epub 2020 Oct 19.
4
Inborn Errors of Metabolism in Pediatric Epilepsy.小儿癫痫中的先天性代谢缺陷
J Pediatr Pharmacol Ther. 2019 Sep-Oct;24(5):398-405. doi: 10.5863/1551-6776-24.5.398.
5
Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.先天性代谢缺陷与癫痫:当前的认识、诊断及治疗方法
Int J Mol Sci. 2017 Jul 2;18(7):1384. doi: 10.3390/ijms18071384.
6
Lysine metabolism in mammalian brain: an update on the importance of recent discoveries.哺乳动物大脑中的赖氨酸代谢:对近期发现重要性的更新。
Amino Acids. 2013 Dec;45(6):1249-72. doi: 10.1007/s00726-013-1590-1. Epub 2013 Sep 17.
7
New treatment paradigms in neonatal metabolic epilepsies.新生儿代谢性癫痫的新治疗模式
J Inherit Metab Dis. 2009 Apr;32(2):204-13. doi: 10.1007/s10545-009-1045-8. Epub 2009 Feb 24.
8
Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.吡哆醇依赖性和吡哆醇反应性癫痫发作的临床特征与管理:对提交至患者登记处的63例北美病例的回顾
Eur J Pediatr. 2009 Jun;168(6):697-704. doi: 10.1007/s00431-008-0823-x. Epub 2008 Sep 2.
采用高效液相色谱法并使用邻苯二甲醛进行柱前衍生化后,通过荧光法测定血浆和脑脊液中的总同型半胱氨酸。
J Chromatogr. 1992 Aug 7;579(1):55-62. doi: 10.1016/0378-4347(92)80362-t.
4
Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology.
Clin Chem. 1992 Dec;38(12):2405-10.