Assessing the effects of PMM2 variants on protein stability von 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.

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Performance Evaluation of Real Industrial RTO Systems von Câmara, Maurício, Quelhas, André, Pinto, José

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Common vulnerabilities of RTO implementations in real chemical processes von Quelhas, André D., de Jesus, Normando José Castro, Pinto, José Carlos

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Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients von 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

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Quantitative analysis of five sterols in amniotic fluid by GC–MS: Application to the diagnosis of cholesterol biosynthesis defects von Amaral, C., Gallardo, E., Rodrigues, R., Pinto Leite, R., Quelhas, D., Tomaz, C., Cardoso, M.L.

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RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants von Quelhas, D., Jaeken, J., Fortuna, A., Azevedo, L., Bandeira, A., Matthijs, G., Martins, E.

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Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insig... von 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.

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The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations von 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.

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Histogram-based DNA analysis for the visualization of chromosome, genome and species information von COSTA, António M, MACHADO, Jose T, QUELHAS, Maria D

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CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation von 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.

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Conserved Oligomeric Golgi Complex Subunit 1 Deficiency Reveals a Previously Uncharacterized Congenital Disorder of Glycosylation Type II von Foulquier, François, Vasile, Eliza, Schollen, Els, Callewaert, Nico, Raemaekers, Tim, Quelhas, Dulce, Jaeken, Jaak, Mills, Philippa, Winchester, Bryan, Krieger, Monty, Annaert, Wim, Matthijs, Gert

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Congenital Disorder of Glycosylation Type Ia: Searching for the Origin of Common Mutations in PMM2 von Quelhas, D., Quental, R., Vilarinho, L., Amorim, A., Azevedo, L.

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Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain) von 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.

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Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience von 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

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Assessing the effects of PMM2 variants on protein stability von Quelhas, D, Carneiro, J, Lopes-Marques, M, Jaeken, J, Martins, E, Rocha, J.F, Carla, S.S. Teixeira, Ferreira, C.R, Sousa, S.F, Azevedo, L

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SLC35A2-CDG: Novel variant and review von Quelhas, Dulce, Correia, Joana, Jaeken, Jaak, Azevedo, Luísa, Lopes-Marques, Mónica, Bandeira, Anabela, Keldermans, Liesbeth, Matthijs, Gert, Sturiale, Luisa, Martins, Esmeralda

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Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome von Rocha, Júlio C., van Spronsen, Francjan J., Almeida, Manuela F., Soares, Gabriela, Quelhas, Dulce, Ramos, Elisabete, Guimarães, João T., Borges, Nuno

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G.P.13.02 Myopathy with autophagic vacuoles in a patient with CDG type I von Santos, M, Martins, E, Quelhas, D, Guimarães, A

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The strategic importance of teaching Operations Research for achieving high performance in the petroleum refining business von Joly, Marcel, Rocha, Roger, Sousa, Luiz Carlos F., Takahashi, Marcia T., Mendonça, Pierre N., Moraes, Leonardo A.M., Quelhas, André D.

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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 von Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio

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