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1 Ergebnisse
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Identification of Six Novel Variants of ACAD8 in Isobutyryl..:
Dan-Yan Zhuang
;
Shu-Xia Ding
;
Fei Wang
...
https://www.frontiersin.org/articles/10.3389/fgene.2021.791869/full. , 2022
Link:
https://doi.org/10.3389/fgene.2021.791869
RT Journal T1 <Title>Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:3dc6c10b8c7f480fb3cffc9a8fab2f9a&Exemplar=1&LAN=DE A1 Dan-Yan Zhuang A1 Shu-Xia Ding A1 Fei Wang A1 Xiang-Chun Yang A1 Xiao-Li Pan A1 You-Wei Bao A1 Li-ming Zhou A1 Hai-bo Li PB Frontiers Media S.A. YR 2022 K1 IBDHD K1 tandem mass spectrometry K1 ACAD8 K1 genetic mutations K1 inherited metabolic diseases K1 Genetics K1 QH426-470 JF https://www.frontiersin.org/articles/10.3389/fgene.2021.791869/full LK http://dx.doi.org/https://doi.org/10.3389/fgene.2021.791869 DO https://doi.org/10.3389/fgene.2021.791869 SF ELIB - SuUB Bremen
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