A Dutch translational knowledge agenda for inherited metabolic diseases.

IF 4.2 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Journal of Inherited Metabolic Disease Pub Date : 2024-11-16 DOI:10.1002/jimd.12812
Hans R Waterham, Ronald J A Wanders, Ron A Wevers, Clara D van Karnebeek
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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”).
期刊最新文献
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders. Brain morphometry in hepatic Wilson disease patients. A Dutch translational knowledge agenda for inherited metabolic diseases. Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey. News from Valencia: JIMD themed issue on ureagenesis defects and allied disorders.
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