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L-carnitine protects DNA oxidative damage induced by phenylalanine and its keto acid derivatives in neural cells: a possible pathomechanism and adjuvant therapy for brain injury in phenylketonuria.
Faverzani JL, Steinmetz A, Deon M, Marchetti DP, Guerreiro G, Sitta A, de Moura Coelho D, Lopes FF, Nascimento LVM, Steffens L, Henn JG, Ferro MB, Brito VB, Wajner M, Moura DJ, Vargas CR. Faverzani JL, et al. Among authors: lopes ff. Metab Brain Dis. 2021 Oct;36(7):1957-1968. doi: 10.1007/s11011-021-00780-x. Epub 2021 Jul 3. Metab Brain Dis. 2021. PMID: 34216350
Hyperammonemia in Inherited Metabolic Diseases.
Ribas GS, Lopes FF, Deon M, Vargas CR. Ribas GS, et al. Among authors: lopes ff. Cell Mol Neurobiol. 2022 Nov;42(8):2593-2610. doi: 10.1007/s10571-021-01156-6. Epub 2021 Oct 19. Cell Mol Neurobiol. 2022. PMID: 34665389 Review.
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.
Kubaski F, Burlina A, Polo G, Pereira D, Herbst ZM, Silva C, Trapp FB, Michelin-Tirelli K, Lopes FF, Burin MG, Brusius-Facchin AC, Netto ABO, Faqueti L, Iop GD, Poletto E, Giugliani R. Kubaski F, et al. Among authors: lopes ff. Int J Neonatal Screen. 2022 Jun 28;8(3):39. doi: 10.3390/ijns8030039. Int J Neonatal Screen. 2022. PMID: 35892469 Free PMC article.
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.
Kubaski F, Burlina A, Pereira D, Silva C, Herbst ZM, Trapp FB, Michelin-Tirelli K, Lopes FF, Burin MG, Brusius-Facchin AC, Netto ABO, Poletto E, Bernardes TM, Carvalho GS, Sorte NB, Ferreira FN, Perin N, Clivati MR, de Santana MTS, Lobos SFG, Leão EKEA, Coutinho MP, Pinos PV, Santos MLSF, Penatti DA, Lourenço CM, Polo G, Giugliani R. Kubaski F, et al. Among authors: lopes ff. Orphanet J Rare Dis. 2022 Nov 8;17(1):407. doi: 10.1186/s13023-022-02560-x. Orphanet J Rare Dis. 2022. PMID: 36348386 Free PMC article.
52 results