Diogo L - Search Results

1

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.

Oliveira R, Pereira C, Rodrigues F, Alfaite C, Garcia P, Robalo C, Fineza I, Gonçalves O, Struys E, Salomons G, Jakobs C, Diogo L. Oliveira R, et al. Among authors: diogo l. Epileptic Disord. 2013 Dec;15(4):400-6. doi: 10.1684/epd.2013.0610. Epileptic Disord. 2013. PMID: 24184718 Free article.

2

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. J Inherit Metab Dis. 1996;19(3):369-70. doi: 10.1007/BF01799270. J Inherit Metab Dis. 1996. PMID: 8803783 No abstract available.

3

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: diogo l. Mol Genet Metab. 2004 Aug;82(4):334-8. doi: 10.1016/j.ymgme.2004.06.003. Mol Genet Metab. 2004. PMID: 15308132

4

[Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis].

Diogo L, Proença T, Garcia P, Olveira C, Simmonds A. Diogo L, et al. Acta Med Port. 2004 Jan-Feb;17(1):67-9. Epub 2004 Feb 27. Acta Med Port. 2004. PMID: 15636730 Free article. Portuguese.

5

Mitochondrial dysfunction in autism spectrum disorders: a population-based study.

Oliveira G, Diogo L, Grazina M, Garcia P, Ataíde A, Marques C, Miguel T, Borges L, Vicente AM, Oliveira CR. Oliveira G, et al. Among authors: diogo l. Dev Med Child Neurol. 2005 Mar;47(3):185-9. doi: 10.1017/s0012162205000332. Dev Med Child Neurol. 2005. PMID: 15739723 Free article.

6

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.

Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C. Vilarinho L, et al. Among authors: diogo l. Hum Mutat. 2005 Oct;26(4):395-6. doi: 10.1002/humu.9373. Hum Mutat. 2005. PMID: 16134148

7

Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution (1)H NMR spectroscopy.

Duarte IF, Goodfellow BJ, Barros A, Jones JG, Barosa C, Diogo L, Garcia P, Gil AM. Duarte IF, et al. Among authors: diogo l. NMR Biomed. 2007 Jun;20(4):401-12. doi: 10.1002/nbm.1073. NMR Biomed. 2007. PMID: 17149801 Free article.

8

Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report.

Grazina MM, Diogo LM, Garcia PC, Silva ED, Garcia TD, Robalo CB, Oliveira CR. Grazina MM, et al. Eur J Paediatr Neurol. 2007 Mar;11(2):115-8. doi: 10.1016/j.ejpn.2006.11.015. Epub 2007 Jan 24. Eur J Paediatr Neurol. 2007. PMID: 17254817

9

Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome.

Costa E, Duque F, Oliveira J, Garcia P, Gonçalves I, Diogo L, Santos R. Costa E, et al. Among authors: diogo l. Blood Cells Mol Dis. 2007 Jul-Aug;39(1):96-101. doi: 10.1016/j.bcmd.2007.02.002. Epub 2007 Mar 21. Blood Cells Mol Dis. 2007. PMID: 17376717 Free article.

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: diogo 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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