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

Year Number of Results
2007 2
2009 2
2010 1
2012 1
2013 1
2014 1
2015 4
2016 4
2017 2
2018 1
2019 2
2020 3
2021 1
2022 4
2023 6
2024 0

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Page 1
Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital.
Pereira Â, Diogo da Silva J, Soares AR, Guimas A, Rocha S, Cardoso M, Garrido C, Azevedo Soares C, Nunes I, Maria Fortuna A, Quelhas D, Figueiroa S, Ribeiro R, Santos M, Martins E, Tkachenko N. Pereira Â, et al. Among authors: maria fortuna a. Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914122936. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37711120
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Maia N, Potelle S, Yildirim H, Duvet S, Akula SK, Schulz C, Wiame E, Gheldof A, O'Kane K, Lai A, Sermon K, Proisy M, Loget P, Attié-Bitach T, Quelin C, Fortuna AM, Soares AR, de Brouwer APM, Van Schaftingen E, Nassogne MC, Walsh CA, Stouffs K, Jorge P, Jansen AC, Foulquier F. Maia N, et al. Among authors: fortuna am. Am J Hum Genet. 2022 Feb 3;109(2):345-360. doi: 10.1016/j.ajhg.2021.12.010. Epub 2022 Jan 18. Am J Hum Genet. 2022. PMID: 35045343 Free PMC article.
A new tool to screen patients with severe obstructive sleep apnea in the primary care setting: a prospective multicenter study.
Peñacoba P, Llauger MA, Fortuna AM, Flor X, Sampol G, Pedro-Pijoan AM, Grau N, Santiveri C, Juvanteny J, Aoiz JI, Bayó J, Lloberes P, Mayos M; PASHOS Working Group. Peñacoba P, et al. Among authors: fortuna am. BMC Pulm Med. 2022 Jan 15;22(1):38. doi: 10.1186/s12890-022-01827-0. BMC Pulm Med. 2022. PMID: 35033055 Free PMC article.
30 results