{"title":"线粒体疾病的临床前景。","authors":"Josef Finsterer","doi":"10.17458/per.vol16.2018.f.mitochondrialdisorders","DOIUrl":null,"url":null,"abstract":"<p><p>Mitochondrial disorders are increasingly recognised world-wide and represent a diagnostic and therapeutic challenge. This is due to the peculiarities of mitochondrial genetics and the extreme genotypic and phenotypic heterogeneity of these disorders. Traditional time-consuming and expensive diagnostic steps are increasingly replaced by first-line genetic approaches. Despite recent advances in the treatment and prevention of mitochondrial disorders, therapeutic approaches are still limited mainly to non-invasive or invasive symptomatic measures.</p>","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"16 1","pages":"203-208"},"PeriodicalIF":0.0000,"publicationDate":"2018-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"6","resultStr":"{\"title\":\"Clinical Perspectives of Mitochondrial Disorders.\",\"authors\":\"Josef Finsterer\",\"doi\":\"10.17458/per.vol16.2018.f.mitochondrialdisorders\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Mitochondrial disorders are increasingly recognised world-wide and represent a diagnostic and therapeutic challenge. This is due to the peculiarities of mitochondrial genetics and the extreme genotypic and phenotypic heterogeneity of these disorders. Traditional time-consuming and expensive diagnostic steps are increasingly replaced by first-line genetic approaches. Despite recent advances in the treatment and prevention of mitochondrial disorders, therapeutic approaches are still limited mainly to non-invasive or invasive symptomatic measures.</p>\",\"PeriodicalId\":19827,\"journal\":{\"name\":\"Pediatric endocrinology reviews : PER\",\"volume\":\"16 1\",\"pages\":\"203-208\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"6\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric endocrinology reviews : PER\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.17458/per.vol16.2018.f.mitochondrialdisorders\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric endocrinology reviews : PER","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.17458/per.vol16.2018.f.mitochondrialdisorders","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
Mitochondrial disorders are increasingly recognised world-wide and represent a diagnostic and therapeutic challenge. This is due to the peculiarities of mitochondrial genetics and the extreme genotypic and phenotypic heterogeneity of these disorders. Traditional time-consuming and expensive diagnostic steps are increasingly replaced by first-line genetic approaches. Despite recent advances in the treatment and prevention of mitochondrial disorders, therapeutic approaches are still limited mainly to non-invasive or invasive symptomatic measures.
期刊介绍:
PEDIATRIC ENDOCRINOLOGY REVIEWS (PER) publishes scholarly review articles in all areas of clinical and experimental Endocrinology, Diabetes, Nutrition and Metabolism. PER is intended for practicing pediatricians, pediatric endocrinologists, pediatric diabetologists, pediatric gastroenterologists, neonatologists, pediatric gynecologists, nutritionists, sport physicians and pediatricians-in-training.
PER will also publish topics on specific subjects or as proceedings of scientific meetings in the above fields of interest. All articles, whether invited or direct contributions, are peer-reviewed. PER publishes correspondence, book reviews, a meeting calendar and meeting reports.