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Page 1
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: pereira d. Int J Neonatal Screen. 2022 Jun 28;8(3):39. doi: 10.3390/ijns8030039. Int J Neonatal Screen. 2022. PMID: 35892469 Free PMC article.
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.
Kubaski F, Sousa I, Amorim T, Pereira D, Trometer J, Souza A, Ranieri E, Polo G, Burlina A, Brusius-Facchin AC, Netto ABO, Tomatsu S, Giugliani R. Kubaski F, et al. Among authors: pereira d. Int J Neonatal Screen. 2020 Nov 13;6(4):90. doi: 10.3390/ijns6040090. Int J Neonatal Screen. 2020. PMID: 33203019 Free PMC article. Review.
Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry.
Civallero G, Kubaski F, Pereira D, Rübensam G, Herbst ZM, Silva C, Trapp FB, Poletto E, Faqueti L, Iop G, Soares J, van der Linden V, van der Linden H, Lourenço CM, Giugliani R. Civallero G, et al. Among authors: pereira d. Mol Genet Metab Rep. 2022 Jun 21;32:100888. doi: 10.1016/j.ymgmr.2022.100888. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35769135 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: pereira d. 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.
Corrigendum to " Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry" [32/100888 (2022) page 1-4].
Civallero G, Kubaski F, Pereira D, Rübensam G, Herbst ZM, Silva C, Trapp FB, Poletto E, Faqueti L, Iop G, Soares J, van der Linden V, van der Linden H, Lourenço CM, Giugliani R. Civallero G, et al. Among authors: pereira d. Mol Genet Metab Rep. 2022 Dec 7;34:100945. doi: 10.1016/j.ymgmr.2022.100945. eCollection 2023 Mar. Mol Genet Metab Rep. 2022. PMID: 36873249 Free PMC article.
Pilot study of newborn screening for six lysosomal diseases in Brazil.
Kubaski F, Sousa I, Amorim T, Pereira D, Silva C, Chaves V, Brusius-Facchin AC, Netto ABO, Soares J, Vairo F, Poletto E, Trometer J, Souza A, Ranieri E, Polo G, Hong X, Herbst ZM, Burlina A, Gelb MH, Giugliani R. Kubaski F, et al. Among authors: pereira d. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107654. doi: 10.1016/j.ymgme.2023.107654. Epub 2023 Jul 13. Mol Genet Metab. 2023. PMID: 37507255
Is Progesterone Receptor a Neglected Feature in Breast Cancer? A Retrospective Study Analysing the Clinicopathological Characteristics of Breast Cancer Based on Progesterone Receptor Status.
Rodrigues I, Fernandes R, Ferreira A, Pereira D, Fernandes R, Soares R, Luís C. Rodrigues I, et al. Among authors: pereira d. Clin Breast Cancer. 2024 Nov 27:S1526-8209(24)00332-X. doi: 10.1016/j.clbc.2024.11.018. Online ahead of print. Clin Breast Cancer. 2024. PMID: 39706710 Free article.
Characteristics and outcomes of in-hospital patients with Covid-19 and history of tuberculosis: a matched case-control from the Brazilian Covid-19 Registry.
de Carvalho RLR, Pereira DN, Chagas VS, Augusto VM, Costa FR, Nascimento GF, Ruschel KB, Moreira LB, Carneiro M, Guimarães Júnior MH, Costa MA, Bonardi NPF, de Oliveira NR, Aguiar RLO, Costa RM, Pires MC, Marcolino MS. de Carvalho RLR, et al. Among authors: pereira dn. BMC Infect Dis. 2024 Dec 19;24(1):1448. doi: 10.1186/s12879-024-10305-3. BMC Infect Dis. 2024. PMID: 39702196 Free PMC article.
Phyllanthus niruri L. Administration during pregnancy and breastfeeding: Maternal evaluation and effects on initial development and adult behavior of male rat offspring.
Costa Alves MD, Pereira DE, Bidô RCA, de Andrade CMS, Rufino Freitas JC, Bertozzo CCMS, Araújo DFS, Guerra GCB, Barbosa Soares JK. Costa Alves MD, et al. Among authors: pereira de. Brain Res. 2024 Dec 16;1850:149402. doi: 10.1016/j.brainres.2024.149402. Online ahead of print. Brain Res. 2024. PMID: 39694168
1,938 results