Garcia P - Search Results

1

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: garcia p. NMR Biomed. 2007 Jun;20(4):401-12. doi: 10.1002/nbm.1073. NMR Biomed. 2007. PMID: 17149801 Free article.

2

[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.

3

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

4

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.

5

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

6

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: garcia p. 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

7

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.

8

Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal.

Diogo L, Grazina M, Garcia P, Rebelo O, Veiga MA, Cuevas J, Vilarinho L, de Almeida IT, Oliveira CR. Diogo L, et al. Among authors: garcia p. Pediatr Neurol. 2009 May;40(5):351-6. doi: 10.1016/j.pediatrneurol.2008.11.012. Pediatr Neurol. 2009. PMID: 19380071

9

Hepatic anaplerotic outflow fluxes are redirected from gluconeogenesis to lactate synthesis in patients with Type 1a glycogen storage disease.

Jones JG, Garcia P, Barosa C, Delgado TC, Diogo L. Jones JG, et al. Among authors: garcia p. Metab Eng. 2009 May;11(3):155-62. doi: 10.1016/j.ymben.2009.01.003. Epub 2009 Feb 4. Metab Eng. 2009. PMID: 19558966

10

Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders.

Diogo L, Cordeiro M, Garcia P, Fineza I, Moura C, Oliveira CR, Veiga M, Garcia T, Grazina M. Diogo L, et al. Among authors: garcia p, garcia t. Pediatr Neurol. 2010 Mar;42(3):196-200. doi: 10.1016/j.pediatrneurol.2009.09.010. Pediatr Neurol. 2010. PMID: 20159429

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