Vilarinho L - Search Results

1

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

2

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

3

Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy.

Diogo L, Fineza I, Canha J, Borges L, Cardoso ML, Vilarinho L. Diogo L, et al. Among authors: vilarinho l. J Inherit Metab Dis. 1996;19(3):369-70. doi: 10.1007/BF01799270. J Inherit Metab Dis. 1996. PMID: 8803783 No abstract available.

4

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.

5

L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.

Barbot C, Fineza I, Diogo L, Maia M, Melo J, Guimarães A, Pires MM, Cardoso ML, Vilarinho L. Barbot C, et al. Among authors: vilarinho l. Brain Dev. 1997 Jun;19(4):268-73. doi: 10.1016/s0387-7604(97)00574-3. Brain Dev. 1997. PMID: 9187477

6

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

7

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

8

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.

9

Liver transplantation in a case of argininaemia.

Santos Silva E, Martins E, Cardoso ML, Barbot C, Vilarinho L, Medina M. Santos Silva E, et al. Among authors: vilarinho l. J Inherit Metab Dis. 2001 Dec;24(8):885-7. doi: 10.1023/a:1013960712516. J Inherit Metab Dis. 2001. PMID: 11916327 No abstract available.

10

Prolidase deficiency with hyperimmunoglobulin E: a case report.

Lopes I, Marques L, Neves E, Silva A, Taveira M, Pena R, Vilarinho L, Martins E. Lopes I, et al. Among authors: vilarinho l. Pediatr Allergy Immunol. 2002 Apr;13(2):140-2. doi: 10.1034/j.1399-3038.2002.00075.x. Pediatr Allergy Immunol. 2002. PMID: 12000488 Free article.

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