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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: quelhas d. 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
Congenital disorders of glycosylation with neonatal presentation.
Resende C, Carvalho C, Alegria A, Oliveira D, Quelhas D, Bandeira A, Proença E. Resende C, et al. Among authors: quelhas d. BMJ Case Rep. 2014 Apr 16;2014:bcr2013010037. doi: 10.1136/bcr-2013-010037. BMJ Case Rep. 2014. PMID: 24739649 Free PMC article.
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
Foulquier F, Vasile E, Schollen E, Callewaert N, Raemaekers T, Quelhas D, Jaeken J, Mills P, Winchester B, Krieger M, Annaert W, Matthijs G. Foulquier F, et al. Among authors: quelhas d. Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3764-9. doi: 10.1073/pnas.0507685103. Epub 2006 Feb 28. Proc Natl Acad Sci U S A. 2006. PMID: 16537452 Free PMC article.
De Barsy syndrome and ATP6V0A2-CDG.
Leao-Teles E, Quelhas D, Vilarinho L, Jaeken J. Leao-Teles E, et al. Among authors: quelhas d. Eur J Hum Genet. 2010 May;18(5):526; author reply 526. doi: 10.1038/ejhg.2009.218. Epub 2009 Dec 16. Eur J Hum Genet. 2010. PMID: 20010974 Free PMC article. No abstract available.
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group; Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S. Kornak U, et al. Nat Genet. 2008 Jan;40(1):32-4. doi: 10.1038/ng.2007.45. Epub 2007 Dec 23. Nat Genet. 2008. PMID: 18157129
63 results