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martina faraldi
(23 results)?
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
BMC Ophthalmol. 2021 Jun 5;21(1):249. doi: 10.1186/s12886-021-02013-2.
BMC Ophthalmol. 2021.
PMID: 34090370
Free PMC article.
Review.
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, Honzík T.
Rücklová K, et al. Among authors: farolfi m.
Nutrients. 2021 Aug 24;13(9):2925. doi: 10.3390/nu13092925.
Nutrients. 2021.
PMID: 34578803
Free PMC article.
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Structural characterization of two prototypical repressors of SorC family reveals tetrameric assemblies on DNA and mechanism of function.
Šoltysová M, Škerlová J, Pachl P, Škubník K, Fábry M, Sieglová I, Farolfi M, Grishkovskaya I, Babiak M, Nováček J, Krásný L, Řezáčová P.
Šoltysová M, et al. Among authors: farolfi m.
Nucleic Acids Res. 2024 Jun 6:gkae434. doi: 10.1093/nar/gkae434. Online ahead of print.
Nucleic Acids Res. 2024.
PMID: 38842936
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