Pinheiro FC - Search Results

1

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.

2

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.

3

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

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

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.

7

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.

8

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.

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

Chrysin modulates the BDNF/TrkB/AKT/Creb neuroplasticity signaling pathway: Acting in the improvement of cognitive flexibility and declarative, working and aversive memory deficits caused by hypothyroidism in C57BL/6 female mice.

Bortolotto VC, Dahleh MMM, Marques LS, Borstmann SMA, Viana CE, Pinheiro FC, Balok FRM, Meichtry LB, Boeira SP, Guerra GP, Nogueira CW, Prigol M. Bortolotto VC, et al. Among authors: pinheiro fc. Neuroscience. 2024 Dec 19;566:28-38. doi: 10.1016/j.neuroscience.2024.12.032. Online ahead of print. Neuroscience. 2024. PMID: 39709060

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