Diogo L - Search Results

1

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, Cobat A, Luo J, Volpi S, Zimmer B, Sakata S, Dinis A, Ohara O, Garcia Reino EJ, Dobbs K, Hasek M, Holloway SP, McCammon K, Hussong SA, DeRosa N, Van Skike CE, Katolik A, Lorenzo L, Hyodo M, Faria E, Halwani R, Fukuhara R, Smith GA, Galvan V, Damha MJ, Al-Muhsen S, Itan Y, Boeke JD, Notarangelo LD, Studer L, Kobayashi M, Diogo L, Fairbrother WG, Abel L, Rosenberg BR, Hart PJ, Etzioni A, Casanova JL. Zhang SY, et al. Among authors: diogo l. Cell. 2018 Feb 22;172(5):952-965.e18. doi: 10.1016/j.cell.2018.02.019. Cell. 2018. PMID: 29474921 Free PMC article.

2

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.

Regateiro FS, Belkaya S, Neves N, Ferreira S, Silvestre P, Lemos S, Venâncio M, Casanova JL, Gonçalves I, Jouanguy E, Diogo L. Regateiro FS, et al. Among authors: diogo l. Eur J Med Genet. 2017 Aug;60(8):426-432. doi: 10.1016/j.ejmg.2017.05.005. Epub 2017 May 30. Eur J Med Genet. 2017. PMID: 28576691

3

Phenotyping GABA transaminase deficiency: a case description and literature review.

Louro P, Ramos L, Robalo C, Cancelinha C, Dinis A, Veiga R, Pina R, Rebelo O, Pop A, Diogo L, Salomons GS, Garcia P. Louro P, et al. Among authors: diogo l. J Inherit Metab Dis. 2016 Sep;39(5):743-747. doi: 10.1007/s10545-016-9951-z. Epub 2016 Jul 4. J Inherit Metab Dis. 2016. PMID: 27376954

4

[Cerebral creatine deficiency syndromes].

Malheiro R, Diogo L, Garcia P, Fineza I, Oliveira G. Malheiro R, et al. Among authors: diogo l. Acta Med Port. 2012 Nov-Dec;25(6):389-98. Epub 2013 Jan 28. Acta Med Port. 2012. PMID: 23534590 Free article. Portuguese.

5

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: diogo l. 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

6

Experience on statin therapy in paediatric age: retrospective study in a Portuguese referral centre.

Gomes HA, Garcia P, Diogo L, Pires A, Martins P. Gomes HA, et al. Among authors: diogo l. Cardiol Young. 2020 Jun;30(6):840-851. doi: 10.1017/S1047951120001158. Epub 2020 May 15. Cardiol Young. 2020. PMID: 32408915

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: 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.

8

Phenotypic variability in a portuguese family with x-linked creatine transport deficiency.

Garcia P, Rodrigues F, Valongo C, Salomons GS, Diogo L. Garcia P, et al. Among authors: diogo l. Pediatr Neurol. 2012 Jan;46(1):39-41. doi: 10.1016/j.pediatrneurol.2011.10.005. Pediatr Neurol. 2012. PMID: 22196490

9

Nonketotic hyperglycinemia: a cause of encephalopathy in children.

Veríssimo C, Garcia P, Simões M, Robalo C, Henriques R, Diogo L, Grazina M. Veríssimo C, et al. Among authors: diogo l. J Child Neurol. 2013 Feb;28(2):251-4. doi: 10.1177/0883073812441063. Epub 2012 Apr 24. J Child Neurol. 2013. PMID: 22532538

10

Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.

Nunes J, Loureiro S, Carvalho S, Pais RP, Alfaiate C, Faria A, Garcia P, Diogo L. Nunes J, et al. Among authors: diogo l. Neuroradiol J. 2013 Apr;26(2):155-61. doi: 10.1177/197140091302600204. Epub 2013 May 10. Neuroradiol J. 2013. PMID: 23859237 Free PMC article.

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

116 results

Search Page