Pinheiro FC - Search Results

1

Are the Bacteria and Their Metabolites Contributing for Gut Inflammation on GSD-Ia Patients?

Colonetti K, de Carvalho EL, Rangel DL, Pinto PM, Roesch LFW, Pinheiro FC, Schwartz IVD. Colonetti K, et al. Among authors: pinheiro fc. Metabolites. 2022 Sep 16;12(9):873. doi: 10.3390/metabo12090873. Metabolites. 2022. PMID: 36144277 Free PMC article.

2

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. Gene. 2019 May 30;699:102-109. doi: 10.1016/j.gene.2019.03.007. Epub 2019 Mar 9. Gene. 2019. PMID: 30858132

3

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: pinheiro fc. 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.

4

KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword.

Pinheiro FC, Sperb-Ludwig F, Schwartz IVD. Pinheiro FC, et al. Cell Mol Life Sci. 2020 Sep;77(17):3465-3466. doi: 10.1007/s00018-020-03575-y. Epub 2020 Jun 26. Cell Mol Life Sci. 2020. PMID: 32591859 Free PMC article. No abstract available.

5

The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients.

Pinheiro FC, Sperb-Ludwig F, Fagundes Verch JM, Dos Santos BB, de Souza CFM, Schwartz IVD. Pinheiro FC, et al. Mol Genet Metab Rep. 2020 Oct 20;25:100659. doi: 10.1016/j.ymgmr.2020.100659. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33101979 Free PMC article.

6

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. 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.

7

Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.

de Marchi R, Nalin T, Sperb-Ludwig F, Pinheiro FC, Schwartz IVD, Steiner CE. de Marchi R, et al. Among authors: pinheiro fc. Genes (Basel). 2023 Dec 15;14(12):2219. doi: 10.3390/genes14122219. Genes (Basel). 2023. PMID: 38137041 Free PMC article.

8

An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.

Donis KC, Kalil MAB, Poswar F, Kok F, Kohem CL, Poloni S, Borsatto T, Vairo FPE, Pinheiro FC, Schwartz IVD. Donis KC, et al. Among authors: pinheiro fc. Genet Mol Biol. 2024 Apr 8;47(1):e20220335. doi: 10.1590/1678-4685-GMB-2022-0335. eCollection 2024. Genet Mol Biol. 2024. PMID: 38593426 Free PMC article.

9

Epidemiological aspects of hereditary fructose intolerance: A database study.

Pinheiro FC, Sperb-Ludwig F, Schwartz IVD. Pinheiro FC, et al. Hum Mutat. 2021 Dec;42(12):1548-1566. doi: 10.1002/humu.24282. Epub 2021 Sep 24. Hum Mutat. 2021. PMID: 34524712

10

A new ultrasound-assisted microextraction for elemental impurities determination in tablets by ICP-MS according to USP chapters 232 and 233.

Noronha IFPC, Pinheiro FC, Nascentes CC. Noronha IFPC, et al. Among authors: pinheiro fc. Talanta. 2024 May 1;271:125604. doi: 10.1016/j.talanta.2023.125604. Epub 2024 Jan 1. Talanta. 2024. PMID: 38219318

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