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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 2
2008 4
2009 1
2011 1
2012 1
2013 1
2014 4
2015 3
2016 8
2017 1
2018 5
2019 9
2020 7
2021 8
2022 0
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47 results
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Page 1
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.
Ocular manifestations in classic homocystinuria.
Gus PI, Donis KC, Marinho D, Martins TF, de Souza CFM, Carloto RB, Leivas G, Schwartz IVD. Gus PI, et al. Among authors: de souza cfm. Ophthalmic Genet. 2021 Feb;42(1):71-74. doi: 10.1080/13816810.2020.1821384. Epub 2020 Sep 17. Ophthalmic Genet. 2021. PMID: 32940091
Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A, Knaus A, Pendziwiat M, Afenjar A, Barakat TS, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczałuba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. Bayat A, et al. Among authors: moura de souza cf. Epilepsia. 2020 Jun;61(6):1142-1155. doi: 10.1111/epi.16545. Epub 2020 May 26. Epilepsia. 2020. PMID: 32452540 Review.
Treatment of inborn errors of metabolism.
Schwartz IV, Souza CF, Giugliani R. Schwartz IV, et al. Among authors: souza cf. J Pediatr (Rio J). 2008 Aug;84(4 Suppl):S8-19. doi: 10.2223/JPED.1801. Epub 2008 Aug 22. J Pediatr (Rio J). 2008. PMID: 18758655 Free article. Review. English, Portuguese.
Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency.
Pinheiro FC, Sperb-Ludwig F, Ligabue-Braun R, Schüler-Faccini L, de Souza CFM, Vairo F, Schwartz IVD. Pinheiro FC, et al. Among authors: de souza cfm. Gene. 2019 May 30;699:102-109. doi: 10.1016/j.gene.2019.03.007. Epub 2019 Mar 9. Gene. 2019. PMID: 30858132
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.
Pinheiro FC, Ligabue-Braun R, Siqueira ACM, Matuella C, Souza CFM, Monteiro FP, Kok F, Schwartz IVD, Sperb-Ludwig F. Pinheiro FC, et al. Among authors: souza cfm. Genet Mol Biol. 2021 May 14;44(2):e20200281. doi: 10.1590/1678-4685-GMB-2020-0281. eCollection 2021. Genet Mol Biol. 2021. PMID: 33999094 Free PMC article.
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J. Derks TGJ, et al. Among authors: fischinger moura de souza c. Nutrients. 2021 Oct 27;13(11):3828. doi: 10.3390/nu13113828. Nutrients. 2021. PMID: 34836082 Free PMC article. Review.
Lysosomal diseases: Overview on current diagnosis and treatment.
Poswar FO, Vairo F, Burin M, Michelin-Tirelli K, Brusius-Facchin AC, Kubaski F, Souza CFM, Baldo G, Giugliani R. Poswar FO, et al. Among authors: souza cfm. Genet Mol Biol. 2019;42(1 suppl 1):165-177. doi: 10.1590/1678-4685-GMB-2018-0159. Epub 2019 Apr 25. Genet Mol Biol. 2019. PMID: 31067291 Free PMC article.
47 results