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Page 1
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: schwartz ivd. Gene. 2019 May 30;699:102-109. doi: 10.1016/j.gene.2019.03.007. Epub 2019 Mar 9. Gene. 2019. PMID: 30858132
Hepatic glycogen storage diseases are associated to microbial dysbiosis.
Colonetti K, Bento Dos Santos B, Nalin T, Moura de Souza CF, Triplett EW, Dobbler PT, Schwartz IVD, Roesch LFW. Colonetti K, et al. Among authors: schwartz ivd. PLoS One. 2019 Apr 2;14(4):e0214582. doi: 10.1371/journal.pone.0214582. eCollection 2019. PLoS One. 2019. PMID: 30939160 Free PMC article.
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F, Pinheiro FC, Bettio Soares M, Nalin T, Ribeiro EM, Steiner CE, Ribeiro Valadares E, Porta G, Fishinger Moura de Souza C, Schwartz IVD. Sperb-Ludwig F, et al. Among authors: schwartz ivd. Mol Genet Genomic Med. 2019 Nov;7(11):e877. doi: 10.1002/mgg3.877. Epub 2019 Sep 11. Mol Genet Genomic Med. 2019. PMID: 31508908 Free PMC article.
Is the gut microbiota dysbiotic in patients with classical homocystinuria?
Rizowy GM, Poloni S, Colonetti K, Donis KC, Dobbler PT, Leistner-Segal S, Roesch LFW, Schwartz IVD. Rizowy GM, et al. Among authors: schwartz ivd. Biochimie. 2020 Jun;173:3-11. doi: 10.1016/j.biochi.2020.02.013. Epub 2020 Feb 24. Biochimie. 2020. PMID: 32105814
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: schwartz ivd. 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.
205 results