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Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Nutrients. 2021 Oct 27;13(11):3828. doi: 10.3390/nu13113828.
Nutrients. 2021.
PMID: 34836082
Free PMC article.
Review.
Precision Medicine for Lysosomal Disorders.
Pinto E Vairo F, Rojas Málaga D, Kubaski F, Fischinger Moura de Souza C, de Oliveira Poswar F, Baldo G, Giugliani R.
Pinto E Vairo F, et al. Among authors: fischinger moura de souza c.
Biomolecules. 2020 Jul 26;10(8):1110. doi: 10.3390/biom10081110.
Biomolecules. 2020.
PMID: 32722587
Free PMC article.
Review.
Item in Clipboard
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.
Stockler-Ipsiroglu S, Yazdanpanah N, Yazdanpanah M, Moisa Popurs M, Yuskiv N, Schmitz Ferreira Santos ML, Ae Kim C, Fischinger Moura de Souza C, Marques Lourenço C, Steiner CE, Federhen A, Giugliani L, Bastos Pereira DM, Durán-Carabali LE, Giugliani R.
Stockler-Ipsiroglu S, et al. Among authors: fischinger moura de souza c.
JIMD Rep. 2021 Mar 8;60(1):23-31. doi: 10.1002/jmd2.12211. eCollection 2021 Jul.
JIMD Rep. 2021.
PMID: 34258138
Free PMC article.
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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. Among authors: fischinger moura de souza c.
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.
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Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.
Guelbert N, Espitia Segura OM, Amoretti C, Arteaga Arteaga A, Atanacio NG, Bazan Natacha S, Carvalho EDF, Carvalho de Andrade MDF, Denzler IM, Durand C, Ribeiro E, Giugni JC, González G, González Moron D, Guelbert G, Hernández Rodriguez ZJ, Embiruçu Emilia K, Kauffman MA, Mancilla NI, Marcon L, Marques Pereira A, Fischinger Moura de Souza C, Muñoz VA, Naranjo Flórez RA, Pessoa AL, Ruiz MV, Solano Villareal ML, Spécola N, Tavera LM, Tello J, Troncoso Schifferli M, Ugrina S, Vaccarezza MM, Vergara D, Villanueva MM.
Guelbert N, et al. Among authors: fischinger moura de souza c.
Mol Genet Metab Rep. 2024 Feb 1;38:101060. doi: 10.1016/j.ymgmr.2024.101060. eCollection 2024 Mar.
Mol Genet Metab Rep. 2024.
PMID: 38469103
Free PMC article.
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Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.
Félix TM, Fischinger Moura de Souza C, Oliveira JB, Rico-Restrepo M, Zanoteli E, Zatz M, Giugliani R.
Félix TM, et al. Among authors: fischinger moura de souza c.
Int J Equity Health. 2023 Jan 13;22(1):11. doi: 10.1186/s12939-022-01809-y.
Int J Equity Health. 2023.
PMID: 36639662
Free PMC article.
Review.
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Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects?
Colonetti K, Pinto E Vairo F, Siebert M, Nalin T, Poloni S, Fernando Wurdig Roesch L, Fischinger Moura de Souza C, Cabral Pinheiro F, Vanessa Doederlein Schwartz I.
Colonetti K, et al. Among authors: fischinger moura de souza c.
Cytokine. 2023 Feb;162:156088. doi: 10.1016/j.cyto.2022.156088. Epub 2022 Nov 30.
Cytokine. 2023.
PMID: 36462220
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