A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions

IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Molecular genetics and metabolism Pub Date : 2024-11-07 DOI:10.1016/j.ymgme.2024.108609
Marion Brands , Berith Balfoort , Karabi Acharya , Arthur Bergen , Nicola Brunetti-Pierri , Mark Buijs , Barbara Cellini , Patrick Schultink , Mandeep Singh , Andreas Schulze , Corrie Timmer , David Valle , Ronald Wanders , Kirmo Wartiovaara , Clara van Karnebeek , GACR Bird's Eye View Consortium
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2023 年国际回旋肌萎缩研讨会小回顾:不止于此。聚焦悬而未决的研究问题。
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来源期刊
Molecular genetics and metabolism
Molecular genetics and metabolism 生物-生化与分子生物学
CiteScore
5.90
自引率
7.90%
发文量
621
审稿时长
34 days
期刊介绍: Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.
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A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions Cover 2 / Ed. Board cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant Progressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human disease Multi-omic analysis of a mucolipidosis II neuronal cell model uncovers involvement of pathways related to neurodegeneration and drug metabolism
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