Correction to “Isolated remethylation disorders: Do our treatments benefit patients?”

IF 4.2 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Journal of Inherited Metabolic Disease Pub Date : 2024-07-09 DOI:10.1002/jimd.12770
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Abstract

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:

“MTRR (cblE) c.1285 C>T/c.1910C>T (p.Gln429X/ p.Ser637Leu)”

We apologize for this error.

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更正 "孤立的再甲基化障碍:我们的治疗对患者有益吗?
Schiff,M,Benoist,J-F,Tilea,B,Royer,N,Giraudier,S,Ogier de Baulny,H. 孤立的再甲基化障碍:我们的治疗对患者有益吗?J Inherit Metab Dis. 2011; 34: 137-145. doi:10.1007/s10545-010-9120-8 在原发表文章的第 142 页,标题 "早期治疗的新生儿再甲基化障碍的结果",副标题 "患者 6 "中,"分子调查发现 MTR 基因突变(cblG 缺陷)(表 1)"一句有误。应为:"分子调查发现 MTRR 基因突变(cblE 缺陷)(表 1)。"而在表 1 中:第二列最后一行 "MTR (cblG) c.1348T>G/c.1349C>A(p.Ser450Ala/p.Ser450Tyr)"应替换为:"MTRR (cblE) c.1285 C>T/c.1910C>T(p.Gln429X/ p.Ser637Leu)"我们对此错误深表歉意。
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来源期刊
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease 医学-内分泌学与代谢
CiteScore
9.50
自引率
7.10%
发文量
117
审稿时长
4-8 weeks
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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