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Increasing knowledge in IGF1R defects: lessons from 35 new patients.
J Med Genet. 2020 Mar;57(3):160-168. doi: 10.1136/jmedgenet-2019-106328. Epub 2019 Oct 5.
J Med Genet. 2020.
PMID: 31586944
Free article.
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.
Dessein AF, Fontaine M, Joncquel-Chevalier Curt M, Briand G, Sechter C, Mention-Mulliez K, Dobbelaere D, Douillard C, Lacour A, Redonnet-Vernhet I, Lamireau D, Barth M, Minot-Myhié MC, Kuster A, de Lonlay P, Gregersen N, Acquaviva C, Vianey-Saban C, Vamecq J.
Dessein AF, et al. Among authors: sechter c.
Clin Chim Acta. 2017 Aug;471:101-106. doi: 10.1016/j.cca.2017.05.026. Epub 2017 May 19.
Clin Chim Acta. 2017.
PMID: 28532786
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