Publications by authors named "Daisy Rymen"

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Medial gastrocnemius and semitendinosus muscle growth in typically developing children: Longitudinal reference growth trajectories.
Ineke Verreydt, Ines Vandekerckhove, Geert Molenberghs, Tijl Dewit, Nathalie De Beukelaer, Daisy Rymen

J Anat· January 2026

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Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.
Sebastian Roesch, Anna O'Sullivan, Stefan Tschani, Anna Baghdasaryan, Shanti Balasubramaniam, Daisy Rymen

Mol Genet Metab· October 2025

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Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature.
Ariane De Preter, Anne Rochtus, Peter Witters, Daisy Rymen

Mol Genet Metab Rep· June 2025

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Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.
Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, Dries Verdegem, Christian Thiel, Daisy Rymen

Cell Mol Life Sci· June 2025

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The use of protein supplements in children with cerebral palsy: A scoping literature review.
Ineke Verreydt, Els Ortibus, Anja Van Campenhout, Kaat Desloovere, Daisy Rymen

PLoS One· May 2025

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Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.
Nicole Hammann, Christian Staufner, Lea Dewi Schlieben, Antal Dezsőfi-Gottl, René G Feichtinger, Daisy Rymen

J Inherit Metab Dis· May 2025

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Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
Veronika Holubova, Rita Barone, Stephanie Grunewald, Markéta Tesařová, Hana Hansíková, Daisy Rymen

J Inherit Metab Dis· January 2025

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Mitochondrial HMG-CoA synthase deficiency.
Bram Decru, Marine Lys, Kobe Truijens, Nathalie Mercier, Jean Papadopoulos, Daisy Rymen

Mol Genet Metab· January 2025

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A case of alkaptonuria presenting with unexplained dark-stained diapers and spurious hyperoxaluria and proteinuria due to homogentisic acid interference.
Thibault Vanhove, Margo Aertgeerts, Peter Witters, Daisy Rymen, Detlef Böckenhauer

Biochem Med (Zagreb)· October 2024

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Quality of life in children with erythropoietic protoporphyria: a case-control study.
Louisa G Kluijver, Debby Wensink, Margreet A E M Wagenmakers, Hidde H Huidekoper, Peter Witters, Daisy Rymen

J Dermatol· August 2024

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A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Matthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, Céline Schulz, Geoffroy de Bettignies, Daisy Rymen

Cell· July 2024

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A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Matthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, Céline Schulz, Geoffroy de Bettignies, Daisy Rymen

Cell· July 2024

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Glycosphingolipids in congenital disorders of glycosylation (CDG).
Andrea Jáñez Pedrayes, Daisy Rymen, Bart Ghesquière, Peter Witters

Mol Genet Metab· May 2024

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Pseudohyperglycemia due to glucometer interference in galactosemia.
Bram Decru, Hilde Blanckaert, Gunnar Naulaers, Christine Vanhole, Daisy Rymen

Clin Chem Lab Med· April 2024

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"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
Alexandre Raynor, Arnaud Bruneel, Pieter Vermeersch, Sophie Cholet, Sebastian Friedrich, Daisy Rymen

Proteomics Clin Appl· March 2024

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Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.
Selket Delafontaine, Alberto Iannuzzo, Tarin M Bigley, Bram Mylemans, Ruchit Rana, Daisy Rymen

J Clin Invest· January 2024

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Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
Francisco Del Caño-Ochoa, Bobby G Ng, Antonio Rubio-Del-Campo, Sonal Mahajan, Matthew P Wilson, Daisy Rymen

J Inherit Metab Dis· November 2023

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Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction.
Isabelle Adant, Matthew Bird, Bram Decru, Petra Windmolders, Marie Wallays, Daisy Rymen

Mol Metab· September 2022

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CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
Matthew P Wilson, Zoé Durin, Özlem Unal, Bobby G Ng, Thomas Marrecau, Daisy Rymen

Hum Mol Genet· August 2022

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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Matthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, Bobby G Ng, Wasantha K Ranatunga, Daisy Rymen

Am J Hum Genet· November 2021

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Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.
Christina K Rapp, Ine Van Dijck, Lucia Laugwitz, Mieke Boon, George Briassoulis, Daisy Rymen

Clin Genet· October 2021

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Genotype-Phenotype Correlations in PMM2-CDG.
Laurien Vaes, Daisy Rymen, David Cassiman, Anna Ligezka, Nele Vanhoutvin

Genes (Basel)· October 2021

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SLC37A4-CDG: Second patient.
Matthew P Wilson, Dulce Quelhas, Elisa Leão-Teles, Luisa Sturiale, Daisy Rymen

JIMD Rep· March 2021

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International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, Rita Barone, Sandra Brasil, Daisy Rymen

J Inherit Metab Dis· January 2021

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Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
Daisy Rymen, Martijn Lindhout, Maria Spanou, Farah Ashrafzadeh, Ira Benkel

Genet Med· October 2020

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