{"title":"单胺类、翼胺类或四氢叶酸类不能作为诊断线粒体疾病的生物标志物","authors":"J. Finsterer, S. Zarrouk-Mahjoub","doi":"10.36811/IRJO.2019.110002","DOIUrl":null,"url":null,"abstract":"Keywords: Mitochondrial; mtDNA; Phenotype; Genotype; Myopathy; Muscle biopsy\n\nLetter to the Editor\n\nIn a recent article Batllori et al. reported about a retrospective study of cerebrospinal fluid (CSF) concentrations of monoamines (homovanillic acid (HVA), 5-hydroxyindolacetic acid (5HIAA)), pterines (neopterin, biopterin), and 5-methyl-tetra-hydrofolate (5MTHF) in 29 patients with a genetically confirmed mitochondrial disorder (MID) [1]. The study showed that high HVA is associated with low folate levels in KSS but was otherwise in-conclusive [1]. We have the following comments and concerns.","PeriodicalId":433985,"journal":{"name":"International Research Journal of Ophthalmology","volume":"79 6 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2019-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Monoamines, pterines, or tetrahydrofolate are not useful as biomarkers for diagnosing mitochondrial disorders\",\"authors\":\"J. Finsterer, S. Zarrouk-Mahjoub\",\"doi\":\"10.36811/IRJO.2019.110002\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Keywords: Mitochondrial; mtDNA; Phenotype; Genotype; Myopathy; Muscle biopsy\\n\\nLetter to the Editor\\n\\nIn a recent article Batllori et al. reported about a retrospective study of cerebrospinal fluid (CSF) concentrations of monoamines (homovanillic acid (HVA), 5-hydroxyindolacetic acid (5HIAA)), pterines (neopterin, biopterin), and 5-methyl-tetra-hydrofolate (5MTHF) in 29 patients with a genetically confirmed mitochondrial disorder (MID) [1]. The study showed that high HVA is associated with low folate levels in KSS but was otherwise in-conclusive [1]. We have the following comments and concerns.\",\"PeriodicalId\":433985,\"journal\":{\"name\":\"International Research Journal of Ophthalmology\",\"volume\":\"79 6 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-02-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Research Journal of Ophthalmology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.36811/IRJO.2019.110002\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Research Journal of Ophthalmology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.36811/IRJO.2019.110002","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Monoamines, pterines, or tetrahydrofolate are not useful as biomarkers for diagnosing mitochondrial disorders
Keywords: Mitochondrial; mtDNA; Phenotype; Genotype; Myopathy; Muscle biopsy
Letter to the Editor
In a recent article Batllori et al. reported about a retrospective study of cerebrospinal fluid (CSF) concentrations of monoamines (homovanillic acid (HVA), 5-hydroxyindolacetic acid (5HIAA)), pterines (neopterin, biopterin), and 5-methyl-tetra-hydrofolate (5MTHF) in 29 patients with a genetically confirmed mitochondrial disorder (MID) [1]. The study showed that high HVA is associated with low folate levels in KSS but was otherwise in-conclusive [1]. We have the following comments and concerns.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
