| Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ... Nature genetics 40 (1), 32-34, 2008 | 426 | 2008 |
| Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II F Foulquier, E Vasile, E Schollen, N Callewaert, T Raemaekers, ... Proceedings of the National Academy of Sciences 103 (10), 3764-3769, 2006 | 223 | 2006 |
| Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an … M Butler, D Quelhas, AJ Critchley, H Carchon, HF Hebestreit, RG Hibbert, ... Glycobiology 13 (9), 601-622, 2003 | 193 | 2003 |
| Golgi function and dysfunction in the first COG4-deficient CDG type II patient E Reynders, F Foulquier, E Leão Teles, D Quelhas, W Morelle, ... Human molecular genetics 18 (17), 3244-3256, 2009 | 175 | 2009 |
| International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: diagnosis, treatment and follow up R Altassan, R Péanne, J Jaeken, R Barone, M Bidet, D Borgel, S Brasil, ... Journal of inherited metabolic disease 42 (1), 5-28, 2019 | 135 | 2019 |
| Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome JC Rocha, FJ van Spronsen, MF Almeida, G Soares, D Quelhas, E Ramos, ... Molecular genetics and metabolism 107 (4), 659-663, 2012 | 125 | 2012 |
| CCDC115 deficiency causes a disorder of Golgi homeostasis with abnormal protein glycosylation JC Jansen, S Cirak, M Van Scherpenzeel, S Timal, J Reunert, S Rust, ... The American Journal of Human Genetics 98 (2), 310-321, 2016 | 116 | 2016 |
| Fractional dynamics in DNA JAT Machado, AC Costa, MD Quelhas Communications in Nonlinear Science and Numerical Simulation 16 (8), 2963-2969, 2011 | 89 | 2011 |
| Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects MA Rujano, M Cannata Serio, G Panasyuk, R Péanne, J Reunert, ... Journal of Experimental Medicine 214 (12), 3707-3729, 2017 | 86 | 2017 |
| MAN1B1 deficiency: an unexpected CDG-II D Rymen, R Peanne, MB Millón, V Race, L Sturiale, D Garozzo, P Mills, ... PLoS genetics 9 (12), e1003989, 2013 | 84 | 2013 |
| Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation A Čechová, R Altassan, D Borgel, A Bruneel, J Correia, M Girard, ... Journal of inherited metabolic disease 43 (4), 671-693, 2020 | 58 | 2020 |
| Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients M Barbosa, A Lopes, C Mota, E Martins, J Oliveira, S Alves, P De Bonis, ... Clinical genetics 81 (1), 47-55, 2012 | 58 | 2012 |
| International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): diagnosis, follow‐up, and management R Altassan, S Radenkovic, AC Edmondson, R Barone, S Brasil, ... Journal of inherited metabolic disease 44 (1), 148-163, 2021 | 53 | 2021 |
| Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease C Perez-Cerda, D Quelhas, AI Vega, J Ecay, L Vilarinho, M Ugarte Clinical chemistry 54 (1), 93-100, 2008 | 50 | 2008 |
| Congenital disorders of glycosylation DJ Lefeber, HH Freeze, R Steet, T Kinoshita Essentials of Glycobiology [Internet]. 4th edition, 2022 | 46 | 2022 |
| Wavelet analysis of human DNA JAT Machado, AC Costa, MD Quelhas Genomics 98 (3), 155-163, 2011 | 44 | 2011 |
| X-linked adrenoleukodystrophy in patients with idiopathic Addison disease P Jorge, D Quelhas, P Oliveira, R Pinto, A Nogueira European journal of pediatrics 153, 594-597, 1994 | 41 | 1994 |
| Shannon, Rényie and Tsallis entropy analysis of DNA using phase plane JAT Machado, AC Costa, MD Quelhas Nonlinear Analysis: Real World Applications 12 (6), 3135-3144, 2011 | 36 | 2011 |
| Histogram-based DNA analysis for the visualization of chromosome, genome and species information AM Costa, JT Machado, MD Quelhas Bioinformatics 27 (9), 1207-1214, 2011 | 32 | 2011 |
| Quantitative analysis of five sterols in amniotic fluid by GC–MS: Application to the diagnosis of cholesterol biosynthesis defects C Amaral, E Gallardo, R Rodrigues, RP Leite, D Quelhas, C Tomaz, ... Journal of Chromatography B 878 (23), 2130-2136, 2010 | 32 | 2010 |
Antonio C CostaInstituto Superior de Engenharia do Porto, GECADBestätigte E-Mail-Adresse bei isep.ipp.pt