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Long-term follow-up with filter paper samples in patients with propionic acidemia.
Stanescu S, Belanger-Quintana A, Fernández-Felix BM, Pérez-Cerdá C, Merinero B, Ruiz-Sala P, Arrieta F, Martínez-Pardo M. Stanescu S, et al. Among authors: arrieta f. JIMD Rep. 2020 Sep 27;57(1):44-51. doi: 10.1002/jmd2.12166. eCollection 2021 Jan. JIMD Rep. 2020. PMID: 33473339 Free PMC article.
Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature.
Stanescu S, Bravo-Alonso I, Belanger-Quintana A, Pérez B, Medina-Diaz M, Ruiz-Sala P, Flores NP, Buenache R, Arrieta F, Rodríguez-Pombo P. Stanescu S, et al. Among authors: arrieta f. Orphanet J Rare Dis. 2022 Jun 21;17(1):243. doi: 10.1186/s13023-022-02389-4. Orphanet J Rare Dis. 2022. PMID: 35729663 Free PMC article. Review.
135 results