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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2006 1
2007 6
2008 5
2009 3
2010 4
2011 2
2012 7
2013 7
2014 4
2015 3
2016 7
2017 6
2018 4
2019 3
2020 3
2021 4
2022 3
2023 11
2024 2

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71 results

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Page 1
Citrullinemia and What Else?
Almeida J, Ferreira F, Baptista N, Ferreira S, Santos C, Diogo L. Almeida J, et al. Among authors: diogo l. Endocr Metab Immune Disord Drug Targets. 2023 Oct 18. doi: 10.2174/0118715303280142231006103019. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37859410
Galactose Epimerase Deficiency: Expanding the Phenotype.
Dias Costa F, Ferdinandusse S, Pinto C, Dias A, Keldermans L, Quelhas D, Matthijs G, Mooijer PA, Diogo L, Jaeken J, Garcia P. Dias Costa F, et al. Among authors: diogo l. JIMD Rep. 2017;37:19-25. doi: 10.1007/8904_2017_10. Epub 2017 Mar 1. JIMD Rep. 2017. PMID: 28247339 Free PMC article.
Progressive Generalized Dystonia-Parkinsonism in a Child with Fumaric Aciduria.
Reis-Carneiro D, Robalo C, Laço M, Vidailhet M, Diogo L. Reis-Carneiro D, et al. Among authors: diogo l. Mov Disord Clin Pract. 2022 Apr 27;9(5):707-709. doi: 10.1002/mdc3.13450. eCollection 2022 Jul. Mov Disord Clin Pract. 2022. PMID: 35844283 Free PMC article. No abstract available.
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI; EPGEN Study; Ng BG, Freeze HH, Lefeber DJ, Õunap K. Vals MA, et al. Among authors: diogo l. J Inherit Metab Dis. 2019 May;42(3):553-564. doi: 10.1002/jimd.12055. Epub 2019 Feb 11. J Inherit Metab Dis. 2019. PMID: 30746764
Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants.
Martins S, Santos MJ, Simões M, Jacinto S, Martins Halpern C, Dupont J, Diogo L, Grazina M. Martins S, et al. Among authors: diogo l. Endocr Metab Immune Disord Drug Targets. 2023 Oct 4. doi: 10.2174/0118715303273271230928060000. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37817524
Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
Bruun TUJ, Sidky S, Bandeira AO, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, Luísa D, Nassogne MC, O'Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S. Bruun TUJ, et al. Among authors: luisa d. Metab Brain Dis. 2018 Jun;33(3):875-884. doi: 10.1007/s11011-018-0197-3. Epub 2018 Feb 12. Metab Brain Dis. 2018. PMID: 29435807
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: diogo l. J Pediatr. 2021 Apr;231:148-156. doi: 10.1016/j.jpeds.2020.12.026. Epub 2020 Dec 17. J Pediatr. 2021. PMID: 33340551
71 results