吡哆醇依赖症中的家族性宫内惊厥 - Suppr

Suppr

超能文献

Familial intrauterine convulsions in pyridoxine dependency.

作者信息

Bejsovec M, Kulenda Z, Ponca E

出版信息

Arch Dis Child. 1967 Apr;42(222):201-7. doi: 10.1136/adc.42.222.201.

DOI:10.1136/adc.42.222.201

PMID:6024470

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2019708/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/290f/2019708/32e136a0b97b/archdisch01563-0096-a.jpg

相似文献

Familial intrauterine convulsions in pyridoxine dependency.吡哆醇依赖症中的家族性宫内惊厥

Arch Dis Child. 1967 Apr;42(222):201-7. doi: 10.1136/adc.42.222.201.

[Pyridoxine responsive seizures in an infant (author's transl)].

Padiatr Padol. 1971;6(3):304-8.

Pyridoxine dependency convulsions in a newborn.

JAMA. 1966 Feb 7;195(6):491-3.

[Relations between vitamin B6 status of mother and vitamin B6 nutriture of her newborn infant (author's transl)].母亲的维生素B6状况与其新生儿的维生素B6营养状况之间的关系（作者译）

Z Kinderheilkd. 1973 Aug 31;115(2):163-74.

Pyridoxine deficiency in the neonatal rat.新生大鼠中的维生素B6缺乏症。

J Neurochem. 1969 Nov;16(11):1515-22. doi: 10.1111/j.1471-4159.1969.tb09906.x.

[Familial pyridoxine deficiency in a diabetic patient and her children. Infantile myoclonic encephalopathy with hypsarrhythmia cured with vitamin B 6 in one of them].

Lille Med. 1972 May;17(5):719-29.

[Vitamin B6 dependency syndrome (vitamin B6 dependent seizures, convulsions)].[维生素B6依赖综合征（维生素B6依赖性癫痫发作、惊厥）]

Ryoikibetsu Shokogun Shirizu. 1998(19 Pt 2):229-32.

Pyridoxine-dependent seizures.

Am Fam Physician. 1983 Mar;27(3):183-7.

SIGNS OF PYRIDOXINE DEPENDENCY MANIFEST AT BIRTH IN SIBLINGS.吡哆醇依赖性的体征在出生时出现在兄弟姐妹身上。

Pediatrics. 1963 Aug;32:161-8.

Methionine load test in pyridoxine deficiency.吡哆醇缺乏时的蛋氨酸负荷试验

Int J Vitam Nutr Res. 1972;42(3):468-75.

引用本文的文献

Vitamin-responsive epileptic encephalopathies in children.儿童维生素反应性癫痫性脑病

Epilepsy Res Treat. 2013;2013:510529. doi: 10.1155/2013/510529. Epub 2013 Jul 25.

Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy.一例成功治疗的先天性吡哆醇依赖性癫痫病例的长期随访

JIMD Rep. 2013;10:103-6. doi: 10.1007/8904_2012_210. Epub 2013 Feb 12.

Pyridoxal phosphate-dependent neonatal epileptic encephalopathy.磷酸吡哆醛依赖性新生儿癫痫性脑病

BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.11.2008.1247. Epub 2009 May 10.

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.产前治疗两名依赖吡哆醇的发作的荷兰家庭患者。

Eur J Pediatr. 2010 Mar;169(3):297-303. doi: 10.1007/s00431-009-1020-2. Epub 2009 Jul 9.

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern.维生素B6依赖型癫痫：一种提示性的电临床模式。

Arch Dis Child Fetal Neonatal Ed. 1999 Sep;81(2):F125-9. doi: 10.1136/fn.81.2.f125.

Pyridoxine dependent seizures--a wider clinical spectrum.维生素B6依赖型癫痫——更广泛的临床谱

Arch Dis Child. 1983 Jun;58(6):415-8. doi: 10.1136/adc.58.6.415.

Fits in utero, followed by infantile myoclonic twitchings.宫内发作，随后出现婴儿肌阵挛抽搐。

Proc R Soc Med. 1968 Dec 12;61(12):1255-6. doi: 10.1177/003591576806101201.

Inborn errors of metabolism: principles and their applications.先天性代谢缺陷：原理及其应用

Can Med Assoc J. 1972 Mar 18;106(6):677 passim.

Pyridoxine-dependent seizures, clinical and therapeutic aspects.维生素B6依赖型癫痫：临床与治疗方面

Eur J Pediatr. 1991 May;150(7):452-5. doi: 10.1007/BF01958419.

本文引用的文献

Intermediary metabolism of tryptophan.色氨酸的中间代谢

Nature. 1951 Jul 7;168(4262):20-2. doi: 10.1038/168020a0.

[Unusual diseases which are susceptible to treatment with pyridoxine].[对吡哆醇治疗敏感的罕见疾病]

Monatsschr Kinderheilkd (1902). 1962 Mar;110:116-8.

Vitamin B6-dependency and infantile convulsions.维生素B6依赖与婴儿惊厥

Pediatrics. 1960 Jul;26:62-74.

PYRIDOXINE, TRYPTOPHAN AND EPILEPSY.吡哆醇、色氨酸与癫痫

Dev Med Child Neurol. 1965 Feb;7:73-4.

PYRIDOXINE AND INFANTILE MYOCLONIC SEIZURES.

Neurology. 1965 Feb;15:101-13. doi: 10.1212/wnl.15.2.101.

[FETAL EPILEPTIC SEIZURES. REPORT OF A CASE].[胎儿癫痫发作。一例报告]

Helv Paediatr Acta. 1964 Oct;19:318-25.

BLOOD CELL TRANSAMINASE ACTIVITY IN HUMAN VITAMIN B6 DEFICIENCY.人体维生素B6缺乏时的血细胞转氨酶活性

Am J Clin Nutr. 1964 Aug;15:67-72. doi: 10.1093/ajcn/15.2.67.

VITAMIN B6 REQUIREMENT FOR ADULT MEN.成年男性对维生素B6的需求量

Am J Clin Nutr. 1964 Aug;15:59-66. doi: 10.1093/ajcn/15.2.59.

[ON THE CLINICAL PICTURE OF VITAMIN B6 (PYRIDOXINE) DEPENDENCE IN NEWBORN INFANTS].

Z Kinderheilkd. 1964 Apr 8;89:211-21.

PHARMACOLOGICAL ASPECTS OF VITAMIN B6.维生素B6的药理学特性

Pharmacol Rev. 1964 Jun;16:113-78.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验