Vilarinho L - Search Results

1

Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review.

Pelayo G, Paiva Coelho M, Correia J, Bandeira A, Nogueira C, Vilarinho L, Martins E. Pelayo G, et al. Among authors: vilarinho l. Neurobiol Dis. 2024 Oct 1;200:106644. doi: 10.1016/j.nbd.2024.106644. Epub 2024 Aug 22. Neurobiol Dis. 2024. PMID: 39173847 Free article.

2

The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.

Nogueira C, Pereira C, Silva L, Laranjeira M, Lopes A, Neiva R, Rodrigues E, Campos T, Martins E, Bandeira A, Coelho M, Magalhães M, Damásio J, Gaspar A, Janeiro P, Gomes AL, Ferreira AC, Jacinto S, Vieira JP, Diogo L, Santos H, Mendonça C, Vilarinho L. Nogueira C, et al. Among authors: vilarinho l. Front Cell Dev Biol. 2024 Feb 23;12:1331351. doi: 10.3389/fcell.2024.1331351. eCollection 2024. Front Cell Dev Biol. 2024. PMID: 38465286 Free PMC article.

3

Pharmacogenetic Variants Can Influence Optical Medication Use.

Alves D, Ferreira F, Pereira C, Lopes A, Nogueira C, Vilarinho L. Alves D, et al. Among authors: vilarinho l. Endocr Metab Immune Disord Drug Targets. 2023 Dec 18. doi: 10.2174/0118715303271934231211085226. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 38111112

4

Iodineminho Study: Iodine Supplementation and Prevalence of Iodine Deficiency In Pregnant Women.

Lopes-Pereira M, Roque S, Machado SI, Korevaar TIM, Quialheiro A, Machado A, Vilarinho L, Correia-Neves M, Galanti MR, Bordalo AA, Costa P, Palha JA. Lopes-Pereira M, et al. Among authors: vilarinho l. J Clin Endocrinol Metab. 2024 Oct 15;109(11):e2065-e2074. doi: 10.1210/clinem/dgae041. J Clin Endocrinol Metab. 2024. PMID: 38266309

5

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.

Betsalel OT, Pop A, Rosenberg EH, Fernandez-Ojeda M; Creatine Transporter Research, Group; Jakobs C, Salomons GS. Betsalel OT, et al. Mol Genet Metab. 2012 Apr;105(4):596-601. doi: 10.1016/j.ymgme.2011.12.022. Epub 2012 Jan 6. Mol Genet Metab. 2012. PMID: 22281021

6

A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum.

Baldo MS, Azevedo L, Coelho MP, Martins E, Vilarinho L. Baldo MS, et al. Among authors: vilarinho l. Diagnostics (Basel). 2024 Sep 25;14(19):2133. doi: 10.3390/diagnostics14192133. Diagnostics (Basel). 2024. PMID: 39410537 Free PMC article.

7

Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.

Gonçalves MM, Marcão A, Sousa C, Nogueira C, Fonseca H, Rocha H, Vilarinho L. Gonçalves MM, et al. Among authors: vilarinho l. Int J Neonatal Screen. 2024 Mar 20;10(1):25. doi: 10.3390/ijns10010025. Int J Neonatal Screen. 2024. PMID: 38535129 Free PMC article.

8

History of Neonatal Screening of Congenital Hypothyroidism in Portugal.

Costeira MJ, Costa P, Roque S, Carvalho I, Vilarinho L, Palha JA. Costeira MJ, et al. Among authors: vilarinho l. Int J Neonatal Screen. 2024 Feb 20;10(1):16. doi: 10.3390/ijns10010016. Int J Neonatal Screen. 2024. PMID: 38390980 Free PMC article.

9

Maternal Urinary Iodine Concentration during Pregnancy and Its Impact on Child Growth and Neurodevelopment: An 11-Year Follow-Up Study.

Lopes CA, Duarte M, Prazeres S, Carvalho I, Vilarinho L, Martinez-de-Oliveira J, Limbert E, Lemos MC. Lopes CA, et al. Among authors: vilarinho l. Nutrients. 2023 Oct 20;15(20):4447. doi: 10.3390/nu15204447. Nutrients. 2023. PMID: 37892522 Free PMC article.

10

Neonatal Glycogen Storage Disease Type IA: A Rare Presentation.

Tenente J, Campos T, Vasconcelos C, Santos H, Carvalho M, Ramos A, Vilarinho L, Rodrigues E, Teles EL. Tenente J, et al. Among authors: vilarinho l. Endocr Metab Immune Disord Drug Targets. 2023 Oct 19. doi: 10.2174/0118715303278622231006102118. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37859321

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