Diogo L - Search Results

1

Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association.

Henriques M, Diogo L, Garcia P, Pratas J, Simões M, Grazina M. Henriques M, et al. Among authors: diogo l. J Child Neurol. 2012 Aug;27(8):1059-61. doi: 10.1177/0883073811431015. Epub 2012 Jan 12. J Child Neurol. 2012. PMID: 22241703

2

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

3

[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.

4

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.

5

Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC).

Azevedo L, Soares PA, Quental R, Vilarinho L, Teles EL, Martins E, Diogo L, Garcia P, Cenni B, Wermuth B, Amorim A. Azevedo L, et al. Among authors: diogo l. Ann Hum Genet. 2006 Nov;70(Pt 6):797-801. doi: 10.1111/j.1469-1809.2006.00283.x. Ann Hum Genet. 2006. PMID: 17044854

6

Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene.

Correia C, Coutinho AM, Diogo L, Grazina M, Marques C, Miguel T, Ataíde A, Almeida J, Borges L, Oliveira C, Oliveira G, Vicente AM. Correia C, et al. Among authors: diogo l. J Autism Dev Disord. 2006 Nov;36(8):1137-40. doi: 10.1007/s10803-006-0138-6. J Autism Dev Disord. 2006. PMID: 17151801

7

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

8

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.

9

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

10

Null mutations and lethal congenital form of glycogen storage disease type IV.

Assereto S, van Diggelen OP, Diogo L, Morava E, Cassandrini D, Carreira I, de Boode WP, Dilling J, Garcia P, Henriques M, Rebelo O, ter Laak H, Minetti C, Bruno C. Assereto S, et al. Among authors: diogo l. Biochem Biophys Res Commun. 2007 Sep 21;361(2):445-50. doi: 10.1016/j.bbrc.2007.07.074. Epub 2007 Jul 24. Biochem Biophys Res Commun. 2007. PMID: 17662246

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

118 results

Search Page

Filters