Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

1,819 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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
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.
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.
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.
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.
Psychometric validation of the short version of the Information Needs in Cardiac Rehabilitation scale through a first global assessment.
Ghisi GLM, Cruz MMAD, Vanderlei LCM, Liu X, Xu Z, Jiandani MP, Cuenza L, Kouidi E, Giallauria F, Mohammed J, Maskhulia L, Trevizan PF, Batalik L, Pereira DG, Tourkmani N, Burazor I, Venturini E, Lira GG, Rehfeld MBCV, Neves VR, Borges GJ, Kim WS, Cha S, Zhang L, Grace SL. Ghisi GLM, et al. Among authors: pereira dg. Eur J Prev Cardiol. 2024 May 9:zwae148. doi: 10.1093/eurjpc/zwae148. Online ahead of print. Eur J Prev Cardiol. 2024. PMID: 38722027
1,819 results