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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: trapp fb. 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.
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.
Kubaski F, Herbst ZM, Burin MG, Michelin-Tirelli K, Trapp FB, Gus R, Netto ABO, Brusius-Facchin AC, Leistner-Segal S, Sanseverino MT, de Souza CMF, Wilke MVMB, Oliveira T, Magalhães JAA, Giugliani R. Kubaski F, et al. Among authors: trapp fb. JIMD Rep. 2022 Jan 19;63(2):162-167. doi: 10.1002/jmd2.12270. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281662 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: trapp fb. 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: trapp fb. Int J Neonatal Screen. 2022 Jun 28;8(3):39. doi: 10.3390/ijns8030039. Int J Neonatal Screen. 2022. PMID: 35892469 Free PMC article.
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Montenegro YHA, de Souza CFM, Kubaski F, Trapp FB, Burin MG, Michelin-Tirelli K, Leistner-Segal S, Facchin ACB, Medeiros FS, Giugliani L, Ribeiro EM, Lourenço CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embiruçu EK, Steiner CE, Moreira MLC, Montano HQ, Baldo G, Giugliani R. Montenegro YHA, et al. Among authors: trapp fb. Am J Med Genet A. 2022 Mar;188(3):760-767. doi: 10.1002/ajmg.a.62572. Epub 2021 Nov 22. Am J Med Genet A. 2022. PMID: 34806811
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions.
Josahkian JA, Trapp FB, Burin MG, Michelin-Tirelli K, Magalhães APPS, Sebastião FM, Bender F, Mari JF, Brusius-Facchin AC, Leistner-Segal S, Málaga DR, Giugliani R. Josahkian JA, et al. Among authors: trapp fb. Genet Mol Biol. 2021 Jan 27;44(1):e20200138. doi: 10.1590/1678-4685-GMB-2020-0138. eCollection 2021. Genet Mol Biol. 2021. PMID: 33503199 Free PMC article.
Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil.
Bravo H, Neto EC, Schulte J, Pereira J, Filho CS, Bittencourt F, Sebastião F, Bender F, de Magalhães APS, Guidobono R, Trapp FB, Michelin-Tirelli K, Souza CFM, Rojas Málaga D, Pasqualim G, Brusius-Facchin AC, Giugliani R. Bravo H, et al. Among authors: trapp fb. Mol Genet Metab Rep. 2017 Jul 4;12:92-97. doi: 10.1016/j.ymgmr.2017.06.006. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28721335 Free PMC article.
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Josahkian JA, Brusius-Facchin AC, Netto ABO, Leistner-Segal S, Málaga DR, Burin MG, Michelin-Tirelli K, Trapp FB, Cardoso-Dos-Santos AC, Ribeiro EM, Kim CA, de Siqueira ACM, Santos ML, do Valle DA, da Silva RTB, Horovitz DDG, de Medeiros PFV, de Souza CFM, Giuliani LR, Miguel DSCG, Santana-da-Silva LC, Galera MF, Giugliani R. Josahkian JA, et al. Among authors: trapp fb. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):349-356. doi: 10.1002/ajmg.c.31915. Epub 2021 May 7. Am J Med Genet C Semin Med Genet. 2021. PMID: 33960103
16 results