Vilarinho L - Search Results

1

Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B12 and Folic Acid Importance.

Vanzin CS, Mescka CP, Donida B, Hammerschimidt TG, Ribas GS, Kolling J, Scherer EB, Vilarinho L, Nogueira C, Coitinho AS, Wajner M, Wyse AT, Vargas CR. Vanzin CS, et al. Among authors: vilarinho l. Cell Mol Neurobiol. 2015 Aug;35(6):899-911. doi: 10.1007/s10571-015-0185-7. Epub 2015 Mar 25. Cell Mol Neurobiol. 2015. PMID: 25805165

2

Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card.

Nogueira C, Quelhas D, Vilarinho L. Nogueira C, et al. Among authors: vilarinho l. Mol Genet Metab. 2006 Apr;87(4):379. doi: 10.1016/j.ymgme.2005.10.001. Epub 2005 Dec 15. Mol Genet Metab. 2006. PMID: 16343971 No abstract available.

3

Infantile-onset disorders of mitochondrial replication and protein synthesis.

Nogueira C, Carrozzo R, Vilarinho L, Santorelli FM. Nogueira C, et al. Among authors: vilarinho l. J Child Neurol. 2011 Jul;26(7):866-75. doi: 10.1177/0883073811402072. Epub 2011 May 13. J Child Neurol. 2011. PMID: 21572058 Review.

4

Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands.

Martins E, Marcão A, Bandeira A, Fonseca H, Nogueira C, Vilarinho L. Martins E, et al. Among authors: vilarinho l. JIMD Rep. 2012;6:107-12. doi: 10.1007/8904_2011_124. Epub 2012 Feb 1. JIMD Rep. 2012. PMID: 23430947 Free PMC article.

5

Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome.

Nogueira C, Marques JS, Nesti C, Azevedo L, Di Lullo M, Meschini MC, Orlacchio A, Santorelli FM, Vilarinho L. Nogueira C, et al. Among authors: vilarinho l. Mol Genet Metab. 2013 Dec;110(4):493-4. doi: 10.1016/j.ymgme.2013.09.010. Epub 2013 Sep 25. Mol Genet Metab. 2013. PMID: 24148156 No abstract available.

6

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula.

Marcão A, Couce ML, Nogueira C, Fonseca H, Ferreira F, Fraga JM, Bóveda MD, Vilarinho L. Marcão A, et al. Among authors: vilarinho l. JIMD Rep. 2015;20:113-20. doi: 10.1007/8904_2014_400. Epub 2015 Feb 1. JIMD Rep. 2015. PMID: 25638462 Free PMC article.

7

PCR in the Analysis of Clinical Samples: Prenatal and Postnatal Diagnosis of Inborn Errors of Metabolism.

Vilarinho L, Nogueira C. Vilarinho L, et al. Methods Mol Biol. 2017;1620:213-224. doi: 10.1007/978-1-4939-7060-5_15. Methods Mol Biol. 2017. PMID: 28540711

8

Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.

Henriques BJ, Lucas TG, Martins E, Gaspar A, Bandeira A, Nogueira C, Brandão O, Rocha H, Vilarinho L, Gomes CM. Henriques BJ, et al. Among authors: vilarinho l. Curr Mol Med. 2019;19(7):487-493. doi: 10.2174/1566524019666190507114748. Curr Mol Med. 2019. PMID: 31418342

9

Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.

Sitta A, Guerreiro G, de Moura Coelho D, da Rocha VV, Dos Reis BG, Sousa C, Vilarinho L, Wajner M, Vargas CR. Sitta A, et al. Among authors: vilarinho l. Metab Brain Dis. 2021 Feb;36(2):205-212. doi: 10.1007/s11011-020-00632-0. Epub 2020 Oct 16. Metab Brain Dis. 2021. PMID: 33064266

10

The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients.

Vilarinho L, Chorão R, Cardoso ML, Rocha H, Nogueira C, Santorelli FM. Vilarinho L, et al. J Inherit Metab Dis. 1999 Feb;22(1):90-1. doi: 10.1023/a:1005471904710. J Inherit Metab Dis. 1999. PMID: 10070626 No abstract available.

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