Vilarinho L - Search Results

1

Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.

Vilarinho L, Barbot C, Carrozzo R, Calado E, Tessa A, Dionisi-Vici C, Guimarães A, Santorelli FM. Vilarinho L, et al. J Inherit Metab Dis. 2001 Dec;24(8):883-4. doi: 10.1023/a:1013908728445. J Inherit Metab Dis. 2001. PMID: 11916326 No abstract available.

2

3-Hydroxy-3-methylglutaric aciduria in Portuguese population.

Vilarinho L, Cardoso ML, Rabier D, Rolland MO. Vilarinho L, et al. J Inherit Metab Dis. 1993;16(1):154-5. doi: 10.1007/BF00711329. J Inherit Metab Dis. 1993. PMID: 7683733 No abstract available.

3

Citrullinaemia and isolated sulphite oxidase deficiency in two siblings.

Vilarinho L, Alves JR, Dorche C, Chadefaux B, Parvy P. Vilarinho L, et al. J Inherit Metab Dis. 1994;17(5):638-9. doi: 10.1007/BF00711610. J Inherit Metab Dis. 1994. PMID: 7837778 No abstract available.

4

A new case of hyperoxaluria type II.

Vilarinho L, Araujo R, Vilarinho A, Pereira E, Abdo K, Bardet J, Parvy P, Rabier D. Vilarinho L, et al. Among authors: vilarinho a. J Inherit Metab Dis. 1993;16(5):896-7. doi: 10.1007/BF00714287. J Inherit Metab Dis. 1993. PMID: 8295409 No abstract available.

5

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

6

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

7

The mitochondrial A3243G mutation presenting as severe cardiomyopathy.

Vilarinho L, Santorelli FM, Rosas MJ, Tavares C, Melo-Pires M, DiMauro S. Vilarinho L, et al. J Med Genet. 1997 Jul;34(7):607-9. doi: 10.1136/jmg.34.7.607. J Med Genet. 1997. PMID: 9222976 Free PMC article.

8

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, DiMauro S. Santorelli FM, et al. Among authors: vilarinho l. Biochem Biophys Res Commun. 1997 Sep 18;238(2):326-8. doi: 10.1006/bbrc.1997.7167. Biochem Biophys Res Commun. 1997. PMID: 9299505 Free article.

9

Heterogeneous presentation in Leigh syndrome.

Vilarinho L, Maia C, Coelho T, Coutinho P, Santorelli FM. Vilarinho L, et al. J Inherit Metab Dis. 1997 Sep;20(5):704-5. doi: 10.1023/a:1005330611147. J Inherit Metab Dis. 1997. PMID: 9323566 No abstract available.

10

Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patients.

Vilarinho L, Santorelli FM, Cardoso ML, Coelho T, Guimarães A, Coutinho P. Vilarinho L, et al. Eur Neurol. 1998;39(3):148-53. doi: 10.1159/000007925. Eur Neurol. 1998. PMID: 9605391

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