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martina faraldi
(23 results)?
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.
Nutrients. 2021 Aug 24;13(9):2925. doi: 10.3390/nu13092925.
Nutrients. 2021.
PMID: 34578803
Free PMC article.
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
Farolfi M, Cechova A, Ondruskova N, Zidkova J, Kousal B, Hansikova H, Honzik T, Liskova P.
Farolfi M, et al.
BMC Ophthalmol. 2021 Jun 5;21(1):249. doi: 10.1186/s12886-021-02013-2.
BMC Ophthalmol. 2021.
PMID: 34090370
Free PMC article.
Review.
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