Vilarinho L - Search Results

1

Maple syrup disease presenting as paroxysmal dystonia.

Temudo T, Martins E, Poças F, Cruz R, Vilarinho L. Temudo T, et al. Among authors: vilarinho l. Ann Neurol. 2004 Nov;56(5):749-50. doi: 10.1002/ana.20288. Ann Neurol. 2004. PMID: 15505779 No abstract available.

2

Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection.

Lipari Pinto P, Florindo C, Janeiro P, Santos RL, Mexia S, Rocha H, Tavares de Almeida I, Vilarinho L, Gaspar A. Lipari Pinto P, et al. Among authors: vilarinho l. Nutrients. 2022 Oct 20;14(20):4397. doi: 10.3390/nu14204397. Nutrients. 2022. PMID: 36297083 Free PMC article.

3

A mild form of infantile isolated sulphite oxidase deficiency.

Barbot C, Martins E, Vilarinho L, Dorche C, Cardoso ML. Barbot C, et al. Among authors: vilarinho l. Neuropediatrics. 1995 Dec;26(6):322-4. doi: 10.1055/s-2007-979783. Neuropediatrics. 1995. PMID: 8719749

4

Outcome of three cases of untreated maternal glutaric aciduria type I.

Garcia P, Martins E, Diogo L, Rocha H, Marcão A, Gaspar E, Almeida M, Vaz C, Soares I, Barbot C, Vilarinho L. Garcia P, et al. Among authors: vilarinho l. Eur J Pediatr. 2008 May;167(5):569-73. doi: 10.1007/s00431-007-0556-2. Epub 2007 Jul 28. Eur J Pediatr. 2008. PMID: 17661081

5

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.

Quental S, Macedo-Ribeiro S, Matos R, Vilarinho L, Martins E, Teles EL, Rodrigues E, Diogo L, Garcia P, Eusébio F, Gaspar A, Sequeira S, Furtado F, Lança I, Amorim A, Prata MJ. Quental S, et al. Among authors: vilarinho l. Mol Genet Metab. 2008 Jun;94(2):148-56. doi: 10.1016/j.ymgme.2008.02.008. Epub 2008 Apr 2. Mol Genet Metab. 2008. PMID: 18378174

6

Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.

Quental S, Martins E, Vilarinho L, Amorim A, João Prata M. Quental S, et al. Among authors: vilarinho l. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S457-60. doi: 10.1007/s10545-008-1046-z. Epub 2008 Dec 16. J Inherit Metab Dis. 2008. PMID: 19085071

7

Incidence of maple syrup urine disease in Portugal.

Quental S, Vilarinho L, Martins E, Teles EL, Rodrigues E, Diogo L, Garcia P, Eusébio F, Gaspar A, Sequeira S, Amorim A, Prata MJ. Quental S, et al. Among authors: vilarinho l. Mol Genet Metab. 2010 Aug;100(4):385-7. doi: 10.1016/j.ymgme.2010.04.007. Epub 2010 Apr 22. Mol Genet Metab. 2010. PMID: 20466570

8

Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence.

Paiva Coelho M, Martins E, Vilarinho L. Paiva Coelho M, et al. Among authors: vilarinho l. Eur J Pediatr. 2019 Jan;178(1):21-32. doi: 10.1007/s00431-018-3292-x. Epub 2018 Dec 7. Eur J Pediatr. 2019. PMID: 30535772 Review.

9

Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Martins E, Costa A, Silva E, Medina M, Cardoso ML, Vianey-Saban C, Divry P, Vilarinho L. Martins E, et al. Among authors: vilarinho l. J Inherit Metab Dis. 1996;19(3):373-4. doi: 10.1007/BF01799273. J Inherit Metab Dis. 1996. PMID: 8803786 No abstract available.

10

Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.

Cardoso ML, Martins E, Vasconcelos R, Vilarinho L, Rocha J. Cardoso ML, et al. Among authors: vilarinho l. Hum Mutat. 1999 Oct;14(4):355-6. doi: 10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU20>3.0.CO;2-I. Hum Mutat. 1999. PMID: 10502833

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