Assessing the effects of PMM2 variants on protein stability
Quelhas, D., Carneiro, J., Lopes-Marques, M., Jaeken, J., Martins, E., Rocha, J.F., Teixeira Carla, S.S., Ferreira, C.R., Sousa, S.F., Azevedo, L.
Published in Molecular genetics and metabolism (01.12.2021)
Published in Molecular genetics and metabolism (01.12.2021)
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Journal Article
Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients
Barbosa, M, Lopes, A, Mota, C, Martins, E, Oliveira, J, Alves, S, De Bonis, P, do Céu Mota, M, Dias, C, Rodrigues-Santos, P, Fortuna, AM, Quelhas, D, Lacerda, L, Bisceglia, L, Cardoso, ML
Published in Clinical genetics (01.01.2012)
Published in Clinical genetics (01.01.2012)
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Journal Article
Quantitative analysis of five sterols in amniotic fluid by GC–MS: Application to the diagnosis of cholesterol biosynthesis defects
Amaral, C., Gallardo, E., Rodrigues, R., Pinto Leite, R., Quelhas, D., Tomaz, C., Cardoso, M.L.
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (01.08.2010)
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (01.08.2010)
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Journal Article
RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants
Quelhas, D., Jaeken, J., Fortuna, A., Azevedo, L., Bandeira, A., Matthijs, G., Martins, E.
Published in JIMD Reports, Volume 43 (2019)
Published in JIMD Reports, Volume 43 (2019)
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Book Chapter
Journal Article
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis
Butler, Michael, Quelhas, D., Critchley, Alison J., Carchon, Hubert, Hebestreit, Holger F., Hibbert, Richard G., Vilarinho, Laura, Teles, E., Matthijs, Gert, Schollen, Els, Argibay, Pablo, Harvey, David J., Dwek, Raymond A., Jaeken, Jaak, Rudd, Pauline M.
Published in Glycobiology (Oxford) (01.09.2003)
Published in Glycobiology (Oxford) (01.09.2003)
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Journal Article
The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations
Pérez, B., Briones, P., Quelhas, D., Artuch, R., Vega, A. I., Quintana, E., Gort, L., Ecay, M. J., Matthijs, G., Ugarte, M., Pérez-Cerdá, C.
Published in JIMD Reports - Case and Research Reports, 2011/1 (01.01.2011)
Published in JIMD Reports - Case and Research Reports, 2011/1 (01.01.2011)
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Book Chapter
Journal Article
Congenital Disorder of Glycosylation Type Ia: Searching for the Origin of Common Mutations in PMM2
Quelhas, D., Quental, R., Vilarinho, L., Amorim, A., Azevedo, L.
Published in Annals of human genetics (01.05.2007)
Published in Annals of human genetics (01.05.2007)
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Journal Article
Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain)
Couce, M. L., Castiñeiras, D. E., Moure, J. D., Cocho, J. A., Sánchez-Pintos, P., García-Villoria, J., Quelhas, D., Gregersen, N., Andresen, B. S., Ribes, A., Fraga, J. M.
Published in JIMD Reports - Case and Research Reports, 2011/1 (01.01.2011)
Published in JIMD Reports - Case and Research Reports, 2011/1 (01.01.2011)
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Book Chapter
Journal Article
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
Rujano, Maria A, Cannata Serio, Magda, Panasyuk, Ganna, Péanne, Romain, Reunert, Janine, Rymen, Daisy, Hauser, Virginie, Park, Julien H, Freisinger, Peter, Souche, Erika, Guida, Maria Clara, Maier, Esther M, Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan J, Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas D, Raskind, Wendy H, Schwake, Michael, Duvet, Sandrine, Foulquier, Francois, Matthijs, Gert, Marquardt, Thorsten, Simons, Matias
Published in The Journal of experimental medicine (04.12.2017)
Published in The Journal of experimental medicine (04.12.2017)
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Journal Article
The strategic importance of teaching Operations Research for achieving high performance in the petroleum refining business
Joly, Marcel, Rocha, Roger, Sousa, Luiz Carlos F., Takahashi, Marcia T., Mendonça, Pierre N., Moraes, Leonardo A.M., Quelhas, André D.
Published in Education for chemical engineers (01.01.2015)
Published in Education for chemical engineers (01.01.2015)
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Journal Article
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique, Timal, Sharita, Reunert, Janine, Rust, Stephan, Pérez, Belén, Vicogne, Dorothée, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel, Pérez-Cerdá, Celia, Medrano, Celia, Arnoldy, Andrea, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P., Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A.W., Holleboom, Adriaan G., Nassogne, Marie-Cécile, Sokal, Etienne, Salomon, Jody, van den Bogaart, Geert, Drenth, Joost P.H., Huynen, Martijn A., Veltman, Joris A., Wevers, Ron A., Morava, Eva, Matthijs, Gert, Foulquier, François, Marquardt, Thorsten, Lefeber, Dirk J.
Published in American journal of human genetics (04.02.2016)
Published in American journal of human genetics (04.02.2016)
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Journal Article
Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience
Quelhas, Dulce, Martins, Esmeralda, Azevedo, Luísa, Bandeira, Anabela, Diogo, Luísa, Garcia, Paula, Sequeira, Sílvia, Ferreira, Ana Cristina, Teles, Elisa Leão, Rodrigues, Esmeralda, Fortuna, Ana Maria, Mendonça, Carla, Fernandes, Helena Cabral, Medeira, Ana, Gaspar, Ana, Janeiro, Patrícia, Oliveira, Anabela, Laranjeira, Francisco, Ribeiro, Isaura, Souche, Erica, Race, Valérie, Keldermans, Liesbeth, Matthijs, Gert, Jaeken, Jaak
Published in The Journal of pediatrics (01.04.2021)
Published in The Journal of pediatrics (01.04.2021)
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Journal Article
Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome
Rocha, Júlio C., van Spronsen, Francjan J., Almeida, Manuela F., Soares, Gabriela, Quelhas, Dulce, Ramos, Elisabete, Guimarães, João T., Borges, Nuno
Published in Molecular genetics and metabolism (01.12.2012)
Published in Molecular genetics and metabolism (01.12.2012)
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Journal Article
SLC35A2-CDG: Novel variant and review
Quelhas, Dulce, Correia, Joana, Jaeken, Jaak, Azevedo, Luísa, Lopes-Marques, Mónica, Bandeira, Anabela, Keldermans, Liesbeth, Matthijs, Gert, Sturiale, Luisa, Martins, Esmeralda
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Journal Article
Conserved Oligomeric Golgi Complex Subunit 1 Deficiency Reveals a Previously Uncharacterized Congenital Disorder of Glycosylation Type II
Foulquier, François, Vasile, Eliza, Schollen, Els, Callewaert, Nico, Raemaekers, Tim, Quelhas, Dulce, Jaeken, Jaak, Mills, Philippa, Winchester, Bryan, Krieger, Monty, Annaert, Wim, Matthijs, Gert
Published in Proceedings of the National Academy of Sciences - PNAS (07.03.2006)
Published in Proceedings of the National Academy of Sciences - PNAS (07.03.2006)
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Journal Article
Anti-slug control design: Combining first principle modeling with a data-driven approach to obtain an easy-to-fit model-based control
Diehl, Fabio C., Gerevini, Giovani G., Machado, Tatiane O., Quelhas, André D., Anzai, Thiago K., Bitarelli, Tiago, Serpentini, Fulvio, de Azambuja, José R.F., Jahanshahi, Esmaeil, Skogestad, Sigurd, Farenzena, Marcelo, Trierweiler, Jorge O.
Published in Journal of petroleum science & engineering (01.12.2021)
Published in Journal of petroleum science & engineering (01.12.2021)
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Journal Article
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio
Published in Orphanet journal of rare diseases (06.01.2020)
Published in Orphanet journal of rare diseases (06.01.2020)
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