Journal of Inborn Errors of Metabolism and Screening

Journal of Inborn Errors of Metabolism and Screening
ISSN:
print: 2326-4098
on-line: 2326-4594
Gold OA文章占比:
0.00%
原创研究文献占比:
0.00%
SCI收录类型:
Directory of Open Access Journals (DOAJ)
期刊官网:
期刊介绍英文:
The Journal of Inborn Errors of Metabolism and Screening (JIEMS) is an online peer-reviewed open access journal devoted to publishing clinical and experimental research in inherited metabolic disorders and screening, for health professionals and scientists. Original research articles published in JIEMS range from basic findings that have implications for disease pathogenesis and therapy, passing through diagnosis and screening of metabolic diseases and genetic conditions, and therapy development and outcomes as well. Original articles, reviews on specific topics, brief communications and case reports are welcome. JIEMS aims to become a key resource for geneticists, genetic counselors, biochemists, molecular biologists, reproductive medicine researchers, obstetricians/gynecologists, neonatologists, pediatricians, pathologists and other health professionals interested in inborn errors of metabolism and screening.
CiteScore:
CiteScoreSJRSNIPCiteScore排名
0.60.1550.069
学科
排名
百分位
大类:Medicine
小类:Pediatrics, Perinatology and Child Health
245 / 330
25%
大类:Medicine
小类:Endocrinology, Diabetes and Metabolism
208 / 244
14%
大类:Medicine
小类:Genetics (clinical)
87 / 99
12%
发文信息
历年影响因子
历年发表
2013年4
2014年9
2015年18
2016年44
2017年31
2018年26
2019年12
2020年13
2021年33
2022年7
投稿信息
出版语言:
English
出版国家(地区):
Brazil
审稿时长:
12 weeks
出版商:
SciELO

Journal of Inborn Errors of Metabolism and Screening - 最新文献

Clinical Profile Among Brazilian Mucopolysaccharidosis type II Patients: Subgroup Analysis from the Hunter Outcome Survey

Pub Date : 2023-09-01 DOI: 10.1590/2326-4594-jiems-2023-0002 D. Horovitz, Márcia G Ribeiro, A. X. Acosta, Ana C Monteiro, Jaco Botha, Roberto Giugliani

Familial chylomicronemia syndrome: A comprehensive clinical and genetic approach

Pub Date : 2023-08-11 DOI: 10.1590/2326-4594-jiems-2023-0004 E. Esteban, D. Aimone

Characterization of the SRD5A3-CDG Clinical Spectrum

Pub Date : 2023-07-21 DOI: 10.1590/2326-4594-jiems-2022-0010 Victor Daescu, D. Horton, Kimberly Goodspeed
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