Works matching AU Rymen, Daisy

Results: 22

Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.

Published in:

Cellular & Molecular Life Sciences, 2025, v. 82, n. 1, p. 1, doi. 10.1007/s00018-025-05759-w

By:

Jáñez Pedrayes, Andrea;
De Craemer, Sam;
Idkowiak, Jakub;
Verdegem, Dries;
Thiel, Christian;
Barone, Rita;
Serrano, Mercedes;
Honzík, Tomáš;
Morava, Eva;
Vermeersch, Pieter;
Foulquier, François;
Morelle, Willy;
Swinnen, Johannes V.;
Rymen, Daisy;
Cassiman, David;
Ghesquière, Bart;
Witters, Peter

Publication type:

Article

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

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

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

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

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

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

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

The use of protein supplements in children with cerebral palsy: A scoping literature review.

Published in:

PLoS ONE, 2025, v. 20, n. 5, p. 1, doi. 10.1371/journal.pone.0322730

By:

Verreydt, Ineke;
Ortibus, Els;
Van Campenhout, Anja;
Desloovere, Kaat;
Rymen, Daisy

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

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 3, p. 1, doi. 10.1002/jimd.70035

By:

Hammann, Nicole;
Staufner, Christian;
Schlieben, Lea Dewi;
Dezsőfi‐Gottl, Antal;
Feichtinger, René G.;
Häberle, Johannes;
Junge, Norman;
Konstantopoulou, Vassiliki;
Kopajtich, Robert;
McLin, Valérie;
Rymen, Daisy;
Slavetinsky, Christoph;
Sturm, Ekkehard;
Mayr, Johannes A.;
Wagner, Matias;
Kölker, Stefan;
Prokisch, Holger;
Hoffmann, Georg F.;
Lenz, Dominic

Publication type:

Article

Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12826

By:

Holubova, Veronika;
Barone, Rita;
Grunewald, Stephanie;
Tesařová, Markéta;
Hansíková, Hana;
Augustínová, Jana;
Sykut‐Cegielska, Jolanta;
De Nictolis, Francesca;
Diaz‐Moreno, Unai;
Elangovan, Ramyia;
Epifani, Florencia;
Gasperini, Serena;
Jansen, Mirian;
Lefeber, Dirk;
Maksym‐Gasiorek, Dorota;
Diego, Martinelli;
Ounap, Katrin;
Pettinato, Fabio;
Põder, Haide;
Rymen, Daisy

Publication type:

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

A case of alkaptonuria presenting with unexplained dark-stained diapers and spurious hyperoxaluria and proteinuria due to homogentisic acid interference.

Published in:

Biochemia Medica, 2024, v. 34, n. 3, p. 1, doi. 10.11613/BM.2024.031002

By:

Vanhove, Thibault;
Aertgeerts, Margo;
Witters, Peter;
Rymen, Daisy;
Böckenhauer, Detlef;
Frans, Glynis;
Vermeersch, Pieter

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

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

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

"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

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