Daisy Rymen

KU Leuven — Belgium

Biochemistry, Genetics and Molecular Biology · Life Sciences

22h-index1.7kcitations64works6.02yr avg
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Research Topics

Glycosylation and Glycoproteins Research(27), Metabolism and Genetic Disorders(11), Genetics and Neurodevelopmental Disorders(11), Genomics and Rare Diseases(10), Carbohydrate Chemistry and Synthesis(9)

Publications63 total

Classic galactosemia in the differential diagnosis of neonatal low gammaglutamyltransferase cholestasis
Acta Gastro Enterologica Belgica·2025Open Access
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study
Universität Zürich, ZORA·2025Open Access
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study
Molecular Genetics and Metabolism·2025· 1 citedOpen Access
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
Cellular and Molecular Life Sciences·2025· 4 citedOpen Access
Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature
Molecular Genetics and Metabolism Reports·2025Open Access
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients
Universität Zürich, ZORA·2025Open Access
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency ( <scp>DLDD</scp> ): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients
Journal of Inherited Metabolic Disease·2025· 3 citedOpen Access
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
2025Open Access
Mitochondrial HMG-CoA synthase deficiency
Molecular Genetics and Metabolism·2024· 5 citedOpen Access
Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations
Journal of Inherited Metabolic Disease·2024· 6 citedOpen Access
Quality of life in children with erythropoietic protoporphyria: a case–control study
The Journal of Dermatology·2024· 6 citedOpen Access
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
Cell·2024· 1 citedOpen Access
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
Cell·2024· 23 citedOpen Access
Glycosphingolipids in congenital disorders of glycosylation (CDG)
Molecular Genetics and Metabolism·2024· 7 citedOpen Access
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome
Journal of Clinical Investigation·2024· 21 citedOpen Access
A case of alkaptonuria presenting with unexplained dark-stained diapers and spurious hyperoxaluria and proteinuria due to homogentisic acid interference
Biochemia Medica·2024Open Access
Integrating multiple omics levels using the human protein complexome as a framework, a multi-omics study of inborn errors of metabolism
2023· 1 citedOpen Access
Pseudohyperglycemia due to glucometer interference in galactosemia
Clinical Chemistry and Laboratory Medicine (CCLM)·2023Open Access
“Hide and seek”: Misleading transferrin variants in PMM2‐CDG complicate diagnostics
PROTEOMICS - CLINICAL APPLICATIONS·2023· 6 cited
Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome
2023Open Access
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Frequent Co-authors

Gert Matthijs(23), Jaak Jaeken(18), Peter Witters(15), Valérie Race(10), Éva Morava(9), Liesbeth Keldermans(8), Luisa Sturiale(8), François Foulquier(7), Erika Souche(7), François Foulquier(7), Rita Barone(7), Pieter Vermeersch(7), Hudson H. Freeze(6), Dirk J. Lefeber(6), David Cassiman(6), Dulce Quelhas(6), Romain Péanne(6), Domenico Garozzo(6), Christian Thiel(6), Matthew P. Wilson(6)