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Year Number of Results
2007 2
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43 results

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Page 1
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Zielonka M, et al. Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30. Ann Clin Transl Neurol. 2019. PMID: 31469252 Free PMC article.
SLC37A4-CDG: Second patient.
Wilson MP, Quelhas D, Leão-Teles E, Sturiale L, Rymen D, Keldermans L, Race V, Souche E, Rodrigues E, Campos T, Van Schaftingen E, Foulquier F, Garozzo D, Matthijs G, Jaeken J. Wilson MP, et al. Among authors: leao teles e. JIMD Rep. 2021 Jan 6;58(1):122-128. doi: 10.1002/jmd2.12195. eCollection 2021 Mar. JIMD Rep. 2021. PMID: 33728255 Free PMC article.
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: leao teles e. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
Leukocyte Imbalances in Mucopolysaccharidoses Patients.
Lopes N, Maia ML, Pereira CS, Mondragão-Rodrigues I, Martins E, Ribeiro R, Gaspar A, Aguiar P, Garcia P, Cardoso MT, Rodrigues E, Leão-Teles E, Giugliani R, Coutinho MF, Alves S, Macedo MF. Lopes N, et al. Among authors: leao teles e. Biomedicines. 2023 Jun 13;11(6):1699. doi: 10.3390/biomedicines11061699. Biomedicines. 2023. PMID: 37371793 Free PMC article.
Visual impairment in mucopolysaccharidosis VI.
Magalhães AM, Moleiro AF, Rodrigues E, Castro S, Fonseca J, Leão-Teles E. Magalhães AM, et al. Among authors: leao teles e. JIMD Rep. 2023 Jan 19;64(2):129-137. doi: 10.1002/jmd2.12351. eCollection 2023 Mar. JIMD Rep. 2023. PMID: 36873088 Free PMC article.
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.
López-Valverde L, Vázquez-Mosquera ME, Colón-Mejeras C, Bravo SB, Barbosa-Gouveia S, Álvarez JV, Sánchez-Martínez R, López-Mendoza M, López-Rodríguez M, Villacorta-Argüelles E, Goicoechea-Diezhandino MA, Guerrero-Márquez FJ, Ortolano S, Leao-Teles E, Hermida-Ameijeiras Á, Couce ML. López-Valverde L, et al. Among authors: leao teles e. Transl Res. 2024 Jul;269:47-63. doi: 10.1016/j.trsl.2024.02.006. Epub 2024 Feb 21. Transl Res. 2024. PMID: 38395389 Free article.
Fundoscopic Changes in Maroteaux-Lamy Syndrome.
Magalhães A, Meira J, Cunha AM, Moreira RJ, Leão-Teles E, Falcão M, Breda J, Falcão-Reis F. Magalhães A, et al. Among authors: leao teles e. Case Rep Ophthalmol Med. 2019 Dec 24;2019:4692859. doi: 10.1155/2019/4692859. eCollection 2019. Case Rep Ophthalmol Med. 2019. PMID: 31956456 Free PMC article.
Increased Choroidal Thickness in Morquio Syndrome.
Magalhães A, Vilares-Morgado R, Cunha AM, Leão-Teles E, Falcão M, Carneiro Â, Falcão-Reis F. Magalhães A, et al. Among authors: leao teles e. Case Rep Ophthalmol. 2021 Sep 27;12(3):816-823. doi: 10.1159/000518443. eCollection 2021 Sep-Dec. Case Rep Ophthalmol. 2021. PMID: 34720983 Free PMC article.
De Barsy syndrome and ATP6V0A2-CDG.
Leao-Teles E, Quelhas D, Vilarinho L, Jaeken J. Leao-Teles E, et al. 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.
43 results