Garcia P - Search Results

1

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Quelhas D, Martins E, Azevedo L, Bandeira A, Diogo L, Garcia P, Sequeira S, Ferreira AC, Teles EL, Rodrigues E, Fortuna AM, Mendonça C, Fernandes HC, Medeira A, Gaspar A, Janeiro P, Oliveira A, Laranjeira F, Ribeiro I, Souche E, Race V, Keldermans L, Matthijs G, Jaeken J. Quelhas D, et al. Among authors: garcia p. J Pediatr. 2021 Apr;231:148-156. doi: 10.1016/j.jpeds.2020.12.026. Epub 2020 Dec 17. J Pediatr. 2021. PMID: 33340551

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: garcia p. 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. Among authors: garcia p. 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: garcia p. 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: garcia p. 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

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

7

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: garcia p. 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.

8

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. 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

9

Quantification of hepatic transaldolase exchange activity and its effects on tracer measurements of indirect pathway flux in humans.

Jones JG, Garcia P, Barosa C, Delgado TC, Caldeira MM, Diogo L. Jones JG, et al. Among authors: garcia p. Magn Reson Med. 2008 Feb;59(2):423-9. doi: 10.1002/mrm.21451. Magn Reson Med. 2008. PMID: 18183605 Free article.

10

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.

Quental S, Macedo-Ribeiro S, Matos R, Vilarinho L, Martins E, Teles EL, Rodrigues E, Diogo L, Garcia P, Eusébio F, Gaspar A, Sequeira S, Furtado F, Lança I, Amorim A, Prata MJ. Quental S, et al. Among authors: garcia p. Mol Genet Metab. 2008 Jun;94(2):148-56. doi: 10.1016/j.ymgme.2008.02.008. Epub 2008 Apr 2. Mol Genet Metab. 2008. PMID: 18378174

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