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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: gallego villar l. 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.
Analysis of the Qatari R336C cystathionine β-synthase protein in mice.
Gupta S, Gallego-Villar L, Wang L, Lee HO, Nasrallah G, Al-Dewik N, Häberle J, Thöny B, Blom HJ, Ben-Omran T, Kruger WD. Gupta S, et al. Among authors: gallego villar l. J Inherit Metab Dis. 2019 Sep;42(5):831-838. doi: 10.1002/jimd.12140. Epub 2019 Jul 10. J Inherit Metab Dis. 2019. PMID: 31240737 Free PMC article.
Cysteamine revisited: repair of arginine to cysteine mutations.
Gallego-Villar L, Hannibal L, Häberle J, Thöny B, Ben-Omran T, Nasrallah GK, Dewik AN, Kruger WD, Blom HJ. Gallego-Villar L, et al. J Inherit Metab Dis. 2017 Jul;40(4):555-567. doi: 10.1007/s10545-017-0060-4. Epub 2017 Jun 22. J Inherit Metab Dis. 2017. PMID: 28643139 Free PMC article. Review.
In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder.
Gallego-Villar L, Rivera-Barahona A, Cuevas-Martín C, Guenzel A, Pérez B, Barry MA, Murphy MP, Logan A, Gonzalez-Quintana A, Martín MA, Medina S, Gil-Izquierdo A, Cuezva JM, Richard E, Desviat LR. Gallego-Villar L, et al. Free Radic Biol Med. 2016 Jul;96:1-12. doi: 10.1016/j.freeradbiomed.2016.04.007. Epub 2016 Apr 12. Free Radic Biol Med. 2016. PMID: 27083476
11 results