Found: 18

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  • Pseudohyperglycemia due to glucometer interference in galactosemia.

    Published in:
    Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 5, p. e107, doi. 10.1515/cclm-2023-1304
    By:
    • Decru, Bram;
    • Blanckaert, Hilde;
    • Naulaers, Gunnar;
    • Vanhole, Christine;
    • Rymen, Daisy;
    • Witters, Peter;
    • Van Wambeke, Inge;
    • Gillard, Pieter;
    • Vermeersch, Pieter
    Publication type:
    Article

  • Congenital disorders of glycosylation: other causes of ichthyosis.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 4, p. 444, doi. 10.1038/ejhg.2013.168
    By:
    • Jaeken, Jaak;
    • Rymen, Daisy;
    • Matthijs, Gert
    Publication type:
    Article

  • Genotype-Phenotype Correlations in PMM2-CDG.

    Published in:
    Genes, 2021, v. 12, n. 11, p. 1658, doi. 10.3390/genes12111658
    By:
    • Vaes, Laurien;
    • Rymen, Daisy;
    • Cassiman, David;
    • Ligezka, Anna;
    • Vanhoutvin, Nele;
    • Quelhas, Dulce;
    • Morava, Eva;
    • Witters, Peter
    Publication type:
    Article

  • Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant.

    Published in:
    Genes, 2019, v. 10, n. 11, p. 843, doi. 10.3390/genes10110843
    By:
    • Rymen, Daisy;
    • Ritelli, Marco;
    • Zoppi, Nicoletta;
    • Cinquina, Valeria;
    • Giunta, Cecilia;
    • Rohrbach, Marianne;
    • Colombi, Marina
    Publication type:
    Article

  • MAN1B1 Deficiency: An Unexpected CDG-II.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003989
    By:
    • Rymen, Daisy;
    • Peanne, Romain;
    • Millón, María B.;
    • Race, Valérie;
    • Sturiale, Luisa;
    • Garozzo, Domenico;
    • Mills, Philippa;
    • Clayton, Peter;
    • Asteggiano, Carla G.;
    • Quelhas, Dulce;
    • Cansu, Ali;
    • Martins, Esmeralda;
    • Nassogne, Marie-Cécile;
    • Gonçalves-Rocha, Miguel;
    • Topaloglu, Haluk;
    • Jaeken, Jaak;
    • Foulquier, François;
    • Matthijs, Gert
    Publication type:
    Article

  • Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 4, p. 453, doi. 10.1111/cge.14016
    By:
    • Rapp, Christina K.;
    • Van Dijck, Ine;
    • Laugwitz, Lucia;
    • Boon, Mieke;
    • Briassoulis, George;
    • Ilia, Stavroula;
    • Kammer, Birgit;
    • Reu, Simone;
    • Hornung, Stefanie;
    • Buchert, Rebecca;
    • Sofan, Linda;
    • Froukh, Tawfiq;
    • Witters, Peter;
    • Rymen, Daisy;
    • Haack, Tobias B.;
    • Proesmans, Marijke;
    • Griese, Matthias
    Publication type:
    Article

  • COG5-CDG: expanding the clinical spectrum.

    Published in:
    Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-94
    By:
    • Rymen, Daisy;
    • Keldermans, Liesbeth;
    • Race, Valérie;
    • Régal, Luc;
    • Deconinck, Nicolas;
    • Dionisi-Vici, Carlo;
    • Fung, Cheuk-wing;
    • Sturiale, Luisa;
    • Rosnoblet, Claire;
    • Foulquier, François;
    • Matthijs, Gert;
    • Jaeken, Jaak
    Publication type:
    Article

  • COG5-CDG: expanding the clinical spectrum.

    Published in:
    2012
    By:
    • Rymen, Daisy;
    • Keldermans, Liesbeth;
    • Race, Valérie;
    • Régal, Luc;
    • Deconinck, Nicolas;
    • Dionisi-Vici, Carlo;
    • Fung, Cheuk-Wing;
    • Sturiale, Luisa;
    • Rosnoblet, Claire;
    • Foulquier, François;
    • Matthijs, Gert;
    • Jaeken, Jaak
    Publication type:
    journal article

  • Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1170, doi. 10.1002/jimd.12667
    By:
    • del Caño‐Ochoa, Francisco;
    • Ng, Bobby G.;
    • Rubio‐del‐Campo, Antonio;
    • Mahajan, Sonal;
    • Wilson, Matthew P.;
    • Vilar, Marçal;
    • Rymen, Daisy;
    • Sánchez‐Pintos, Paula;
    • Kenny, Joanna;
    • Ley Martos, Myriam;
    • Campos, Teresa;
    • Wortmann, Saskia B.;
    • Freeze, Hudson H.;
    • Ramón‐Maiques, Santiago
    Publication type:
    Article

  • Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.

    Published in:
    Glycoconjugate Journal, 2013, v. 30, n. 1, p. 67, doi. 10.1007/s10719-012-9445-7
    By:
    • Matthijs, Gert;
    • Rymen, Daisy;
    • Millón, María;
    • Souche, Erika;
    • Race, Valérie
    Publication type:
    Article

  • Glycogen storage disease type VI: clinical course and molecular background.

    Published in:
    2020
    By:
    • Aeppli, Tim RJ;
    • Rymen, Daisy;
    • Allegri, Gabriella;
    • Bode, Peter K;
    • Häberle, Johannes
    Publication type:
    journal article

  • SLC37A4‐CDG: Second patient.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 122, doi. 10.1002/jmd2.12195
    By:
    • Wilson, Matthew P.;
    • Quelhas, Dulce;
    • Leão‐Teles, Elisa;
    • Sturiale, Luisa;
    • Rymen, Daisy;
    • Keldermans, Liesbeth;
    • Race, Valérie;
    • Souche, Erika;
    • Rodrigues, Esmeralda;
    • Campos, Teresa;
    • Van Schaftingen, Emile;
    • Foulquier, François;
    • Garozzo, Domenico;
    • Matthijs, Gert;
    • Jaeken, Jaak
    Publication type:
    Article

  • Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

    Published in:
    2014
    By:
    • Van Scherpenzeel, Monique;
    • Timal, Sharita;
    • Rymen, Daisy;
    • Hoischen, Alexander;
    • Wuhrer, Manfred;
    • Hipgrave-Ederveen, Agnes;
    • Grunewald, Stephanie;
    • Peanne, Romain;
    • Saada, Ann;
    • Edvardson, Shimon;
    • Grønborg, Sabine;
    • Ruijter, George;
    • Kattentidt-Mouravieva, Anna;
    • Brum, Jaime Moritz;
    • Freckmann, Mary-Louise;
    • Tomkins, Susan;
    • Jalan, Anil;
    • Prochazkova, Dagmar;
    • Ondruskova, Nina;
    • Hansikova, Hana
    Publication type:
    journal article

  • Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1030, doi. 10.1093/brain/awu019
    By:
    • Van Scherpenzeel, Monique;
    • Timal, Sharita;
    • Rymen, Daisy;
    • Hoischen, Alexander;
    • Wuhrer, Manfred;
    • Hipgrave-Ederveen, Agnes;
    • Grunewald, Stephanie;
    • Peanne, Romain;
    • Saada, Ann;
    • Edvardson, Shimon;
    • Grønborg, Sabine;
    • Ruijter, George;
    • Kattentidt-Mouravieva, Anna;
    • Brum, Jaime Moritz;
    • Freckmann, Mary-Louise;
    • Tomkins, Susan;
    • Jalan, Anil;
    • Prochazkova, Dagmar;
    • Ondruskova, Nina;
    • Hansikova, Hana
    Publication type:
    Article

  • Quality of life in children with erythropoietic protoporphyria: a case–control study.

    Published in:
    Journal of Dermatology, 2024, v. 51, n. 8, p. 1068, doi. 10.1111/1346-8138.17348
    By:
    • Kluijver, Louisa G.;
    • Wensink, Debby;
    • Wagenmakers, Margreet A. E. M.;
    • Huidekoper, Hidde H.;
    • Witters, Peter;
    • Rymen, Daisy;
    • Langendonk, Janneke G.
    Publication type:
    Article

  • ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

    Published in:
    Human Mutation, 2016, v. 37, n. 7, p. 653, doi. 10.1002/humu.22983
    By:
    • Ng, Bobby G.;
    • Shiryaev, Sergey A.;
    • Rymen, Daisy;
    • Eklund, Erik A.;
    • Raymond, Kimiyo;
    • Kircher, Martin;
    • Abdenur, Jose E.;
    • Alehan, Fusun;
    • Midro, Alina T.;
    • Bamshad, Michael J.;
    • Barone, Rita;
    • Berry, Gerard T.;
    • Brumbaugh, Jane E.;
    • Buckingham, Kati J.;
    • Clarkson, Katie;
    • Cole, F. Sessions;
    • O'Connor, Shawn;
    • Cooper, Gregory M.;
    • Coster, Rudy;
    • Demmer, Laurie A.
    Publication type:
    Article

  • CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 15, p. 2571, doi. 10.1093/hmg/ddac055
    By:
    • Wilson, Matthew P;
    • Durin, Zoé;
    • Unal, Özlem;
    • Ng, Bobby G;
    • Marrecau, Thomas;
    • Keldermans, Liesbeth;
    • Souche, Erika;
    • Rymen, Daisy;
    • Gündüz, Mehmet;
    • Köse, Gülşen;
    • Sturiale, Luisa;
    • Garozzo, Domenico;
    • Freeze, Hudson H;
    • Jaeken, Jaak;
    • Foulquier, François;
    • Matthijs, Gert
    Publication type:
    Article

  • "Hide and seek": Misleading transferrin variants in PMM2‐CDG complicate diagnostics.

    Published in:
    Proteomics - Clinical Applications, 2024, v. 18, n. 2, p. 1, doi. 10.1002/prca.202300040
    By:
    • Raynor, Alexandre;
    • Bruneel, Arnaud;
    • Vermeersch, Pieter;
    • Cholet, Sophie;
    • Friedrich, Sebastian;
    • Eckenweiler, Matthias;
    • Schumann, Anke;
    • Hengst, Simone;
    • Tuncel, Ali Tunç;
    • Fenaille, François;
    • Thiel, Christian;
    • Rymen, Daisy
    Publication type:
    Article