Vilarinho L - Search Results

1

Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening.

Vilarinho L, Marques JS, Rocha H, Ramos A, Lopes L, Narayan SB, Bennett MJ. Vilarinho L, et al. Mol Genet Metab. 2012 Jul;106(3):277-80. doi: 10.1016/j.ymgme.2012.04.005. Epub 2012 Apr 13. Mol Genet Metab. 2012. PMID: 22579592

2

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.

3

Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis.

Braga AC, Vilarinho L, Ferreira E, Rocha H. Braga AC, et al. Among authors: vilarinho l. J Pediatr Gastroenterol Nutr. 1997 Feb;24(2):218-21. doi: 10.1097/00005176-199702000-00018. J Pediatr Gastroenterol Nutr. 1997. PMID: 9106111 No abstract available.

4

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.

5

Clinical and molecular studies in three Portuguese mtDNA T8993G families.

Vilarinho L, Leão E, Barbot C, Santos M, Rocha H, Santorelli FM. Vilarinho L, et al. Pediatr Neurol. 2000 Jan;22(1):29-32. doi: 10.1016/s0887-8994(99)00113-7. Pediatr Neurol. 2000. PMID: 10669202

6

Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease).

Rocha H, Cabral A, Vilarinho L. Rocha H, et al. Among authors: vilarinho l. Hum Mutat. 2000 Nov;16(5):449. doi: 10.1002/1098-1004(200011)16:5<449::AID-HUMU25>3.0.CO;2-L. Hum Mutat. 2000. PMID: 11058918 No abstract available.

7

Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis.

Azevedo L, Vilarinho L, Teles EL, Amorim A. Azevedo L, et al. Among authors: vilarinho l. Mol Genet Metab. 2002 May;76(1):68-70. doi: 10.1016/s1096-7192(02)00013-6. Mol Genet Metab. 2002. PMID: 12175783

8

The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.

Cardoso ML, Rodrigues MR, Leão E, Martins E, Diogo L, Rodrigues E, Garcia P, Rolland MO, Vilarinho L. Cardoso ML, et al. Among authors: vilarinho l. Mol Genet Metab. 2004 Aug;82(4):334-8. doi: 10.1016/j.ymgme.2004.06.003. Mol Genet Metab. 2004. PMID: 15308132

9

Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.

Cardoso ML, Balreira A, Martins E, Nunes L, Cabral A, Marques M, Lima MR, Marques JS, Medeira A, Cordeiro I, Pedro S, Mota MC, Dionisi-Vici C, Santorelli FM, Jakobs C, Clayton PT, Vilarinho L. Cardoso ML, et al. Among authors: vilarinho l. Mol Genet Metab. 2005 Jul;85(3):228-35. doi: 10.1016/j.ymgme.2005.02.009. Epub 2005 Apr 14. Mol Genet Metab. 2005. PMID: 15979035

10

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

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