Vilarinho L - Search Results

1

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

2

Identification of novel L2HGDH gene mutations and update of the pathological spectrum.

Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L. Vilarinho L, et al. J Hum Genet. 2010 Jan;55(1):55-8. doi: 10.1038/jhg.2009.110. Epub 2009 Nov 13. J Hum Genet. 2010. PMID: 19911013

3

Four years of expanded newborn screening in Portugal with tandem mass spectrometry.

Vilarinho L, Rocha H, Sousa C, Marcão A, Fonseca H, Bogas M, Osório RV. Vilarinho L, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S133-8. doi: 10.1007/s10545-010-9048-z. Epub 2010 Feb 23. J Inherit Metab Dis. 2010. PMID: 20177789

4

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

Martins E, Cardoso ML, Rodrigues E, Barbot C, Ramos A, Bennett MJ, Teles EL, Vilarinho L. Martins E, et al. Among authors: vilarinho l. J Inherit Metab Dis. 2011 Jun;34(3):835-42. doi: 10.1007/s10545-011-9287-7. Epub 2011 Feb 24. J Inherit Metab Dis. 2011. PMID: 21347589

5

Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.

Antunes AP, Nogueira C, Rocha H, Vilarinho L, Evangelista T. Antunes AP, et al. Among authors: vilarinho l. J Clin Neuromuscul Dis. 2013 Dec;15(2):69-72. doi: 10.1097/CND.0000000000000012. J Clin Neuromuscul Dis. 2013. PMID: 24263034

6

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

7

Molecular picture of cobalamin C/D defects before and after newborn screening era.

Nogueira C, Marcão A, Rocha H, Sousa C, Fonseca H, Valongo C, Vilarinho L. Nogueira C, et al. Among authors: vilarinho l. J Med Screen. 2017 Mar;24(1):6-11. doi: 10.1177/0969141316641149. Epub 2016 Jul 7. J Med Screen. 2017. PMID: 27252276

8

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

Fonseca H, Azevedo L, Serrano C, Sousa C, Marcão A, Vilarinho L. Fonseca H, et al. Among authors: vilarinho l. Gene. 2016 Dec 15;594(2):203-210. doi: 10.1016/j.gene.2016.09.003. Epub 2016 Sep 4. Gene. 2016. PMID: 27601257

9

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

10

Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.

Janeiro P, Jotta R, Ramos R, Florindo C, Ventura FV, Vilarinho L, Tavares de Almeida I, Gaspar A. Janeiro P, et al. Among authors: vilarinho l. Eur J Pediatr. 2019 Mar;178(3):387-394. doi: 10.1007/s00431-018-03315-2. Epub 2019 Jan 7. Eur J Pediatr. 2019. PMID: 30617651

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