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CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Poloni S, Sperb-Ludwig F, Borsatto T, Weber Hoss G, Doriqui MJR, Embiruçu EK, Boa-Sorte N, Marques C, Kim CA, Fischinger Moura de Souza C, Rocha H, Ribeiro M, Steiner CE, Moreno CA, Bernardi P, Valadares E, Artigalas O, Carvalho G, Wanderley HYC, Kugele J, Walter M, Gallego-Villar L, Blom HJ, Schwartz IVD. Poloni S, et al. Mol Genet Genomic Med. 2018 Mar;6(2):160-170. doi: 10.1002/mgg3.342. Epub 2018 Jan 20. Mol Genet Genomic Med. 2018. PMID: 29352562 Free PMC article.
Cytokines levels in late-diagnosed Classical Homocystinuria patients.
Poloni S, Siebert M, Donis KC, Weber Hoss GR, Blom HJ, Schwartz IVD. Poloni S, et al. Mol Genet Metab Rep. 2018 Sep 28;17:43-44. doi: 10.1016/j.ymgmr.2018.09.003. eCollection 2018 Dec. Mol Genet Metab Rep. 2018. PMID: 30294544 Free PMC article. No abstract available.
Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.
Poloni S, Dos Santos BB, Chiesa A, Specola N, Pereyra M, Saborío-Rocafort M, Salazar MF, Leal-Witt MJ, Castro G, Peñaloza F, Wong SP, Porras RB, Paranza LO, Sanabria MC, Amieva MV, Morales M, Naranjo ARC, Mahfoud A, Colmenares AR, Lemes A, Sotillo-Lindo JF, Perez C, Rey LM, Torriente GMZ, Refosco LF, Schwartz IVD, Cornejo V. Poloni S, et al. Nutrients. 2021 Jul 27;13(8):2566. doi: 10.3390/nu13082566. Nutrients. 2021. PMID: 34444728 Free PMC article.
Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases.
Jacoby JT, Bento Dos Santos B, Nalin T, Colonetti K, Farret Refosco L, F M de Souza C, Spritzer PM, Poloni S, Hack-Mendes R, Schwartz IVD. Jacoby JT, et al. Among authors: poloni s. Nutrients. 2021 Aug 27;13(9):2987. doi: 10.3390/nu13092987. Nutrients. 2021. PMID: 34578865 Free PMC article.
Homocysteine and methylmalonic acid in Phenylketonuria patients.
Hoss GRW, Sperb-Ludwig F, Tonon T, Poloni S, Behringer S, Blom HJ, Maillot F, Schwartz IVD. Hoss GRW, et al. Among authors: poloni s. Genet Mol Biol. 2024 Apr 5;46(3 Suppl 1):e20230103. doi: 10.1590/1678-4685-GMB-2023-0103. eCollection 2024. Genet Mol Biol. 2024. PMID: 38591937 Free PMC article.
35 results