{"title":"更正 \"孤立的再甲基化障碍：我们的治疗对患者有益吗？","authors":"","doi":"10.1002/jimd.12770","DOIUrl":null,"url":null,"abstract":"<p>\n <span>Schiff, M</span>, <span>Benoist, J-F</span>, <span>Tilea, B</span>, <span>Royer, N</span>, <span>Giraudier, S</span>, <span>Ogier de Baulny, H</span>. <span>Isolated remethylation disorders: do our treatments benefit patients?</span> <i>J Inherit Metab Dis</i>. <span>2011</span>; <span>34</span>: <span>137</span>-<span>145</span>. doi:10.1007/s10545-010-9120-8\n </p><p>In the original published article, heading “Outcome of early-treated neonatal remethylation disorders”, subheading “Patient 6”, page 142, there is a mistake in the sentence “Molecular investigation revealed mutations in the MTR gene (cblG defect) (Table 1)”. It should read:</p><p>“Molecular investigation revealed mutations in the MTRR gene (cblE defect) (Table 1).”</p><p>And in Table 1: The last line in the second column “MTR (cblG) c.1348T>G/c.1349C>A (p.Ser450Ala/p.Ser450Tyr)” should be replaced by:</p><p>“MTRR (cblE) c.1285 C>T/c.1910C>T (p.Gln429X/ p.Ser637Leu)”</p><p>We apologize for this error.</p>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":null,"pages":null},"PeriodicalIF":4.2000,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jimd.12770","citationCount":"0","resultStr":"{\"title\":\"Correction to “Isolated remethylation disorders: Do our treatments benefit patients?”\",\"authors\":\"\",\"doi\":\"10.1002/jimd.12770\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>\\n <span>Schiff, M</span>, <span>Benoist, J-F</span>, <span>Tilea, B</span>, <span>Royer, N</span>, <span>Giraudier, S</span>, <span>Ogier de Baulny, H</span>. <span>Isolated remethylation disorders: do our treatments benefit patients?</span> <i>J Inherit Metab Dis</i>. <span>2011</span>; <span>34</span>: <span>137</span>-<span>145</span>. doi:10.1007/s10545-010-9120-8\\n </p><p>In the original published article, heading “Outcome of early-treated neonatal remethylation disorders”, subheading “Patient 6”, page 142, there is a mistake in the sentence “Molecular investigation revealed mutations in the MTR gene (cblG defect) (Table 1)”. It should read:</p><p>“Molecular investigation revealed mutations in the MTRR gene (cblE defect) (Table 1).”</p><p>And in Table 1: The last line in the second column “MTR (cblG) c.1348T>G/c.1349C>A (p.Ser450Ala/p.Ser450Tyr)” should be replaced by:</p><p>“MTRR (cblE) c.1285 C>T/c.1910C>T (p.Gln429X/ p.Ser637Leu)”</p><p>We apologize for this error.</p>\",\"PeriodicalId\":16281,\"journal\":{\"name\":\"Journal of Inherited Metabolic Disease\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":4.2000,\"publicationDate\":\"2024-07-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jimd.12770\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Inherited Metabolic Disease\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/jimd.12770\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Inherited Metabolic Disease","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/jimd.12770","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Correction to “Isolated remethylation disorders: Do our treatments benefit patients?”
Schiff, M, Benoist, J-F, Tilea, B, Royer, N, Giraudier, S, Ogier de Baulny, H. Isolated remethylation disorders: do our treatments benefit patients?J Inherit Metab Dis. 2011; 34: 137-145. doi:10.1007/s10545-010-9120-8
In the original published article, heading “Outcome of early-treated neonatal remethylation disorders”, subheading “Patient 6”, page 142, there is a mistake in the sentence “Molecular investigation revealed mutations in the MTR gene (cblG defect) (Table 1)”. It should read:
“Molecular investigation revealed mutations in the MTRR gene (cblE defect) (Table 1).”
And in Table 1: The last line in the second column “MTR (cblG) c.1348T>G/c.1349C>A (p.Ser450Ala/p.Ser450Tyr)” should be replaced by:
期刊介绍：
The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. It publishes results of original research and new or important observations pertaining to any aspect of inherited metabolic disease in humans and higher animals. This includes clinical (medical, dental and veterinary), biochemical, genetic (including cytogenetic, molecular and population genetic), experimental (including cell biological), methodological, theoretical, epidemiological, ethical and counselling aspects. The JIMD also reviews important new developments or controversial issues relating to metabolic disorders and publishes reviews and short reports arising from the Society''s annual symposia. A distinction is made between peer-reviewed scientific material that is selected because of its significance for other professionals in the field and non-peer- reviewed material that aims to be important, controversial, interesting or entertaining (“Extras”).
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