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9,118 results

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Page 1
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: silva c. 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.
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: silva c. 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.
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: silva c. Int J Neonatal Screen. 2022 Jun 28;8(3):39. doi: 10.3390/ijns8030039. Int J Neonatal Screen. 2022. PMID: 35892469 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: silva c. 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: silva c. 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
Corrigendum to "Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases" [27/100744/2021/ pages: 1-4].
Kubaski F, Herbst ZM, Pereira DAA, Silva C, Chen C, Hwu PWL, van der Linden H, Lourenço CM, Giugliani R. Kubaski F, et al. Among authors: silva c. Mol Genet Metab Rep. 2022 Nov 23;33:100943. doi: 10.1016/j.ymgmr.2022.100943. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 38234304 Free PMC article.
High frequency of type 1 GM1 gangliosidosis in southern Brazil.
Severini MH, Silva CD, Sopelsa A, Coelho JC, Giugliani R. Severini MH, et al. Among authors: silva cd. Clin Genet. 1999 Aug;56(2):168-9. doi: 10.1034/j.1399-0004.1999.560215.x. Clin Genet. 1999. PMID: 10517258 No abstract available.
9,118 results