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Journal of Inherited Metabolic Disease|December 5, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendationsVeronika Holubova, Rita Barone, Stephanie Grunewald, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|June 7, 2024
Single-cell RNA sequencing of cystic fibrosis liver disease explants reveals endothelial complement activationMathias Declercq, Lucas Treps, Vincent Geldhof, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|September 9, 2020
Normal liver stiffness and influencing factors in healthy children: An individual participant data meta-analysisDarrick K Li, Muhammad Rehan Khan, Zhen Wang, et al.
Annals of Neurology|October 15, 2021
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic ImplicationsAnna N Ligezka, Silvia Radenkovic, Mayank Saraswat, et al.
American Journal of Human Genetics|April 16, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDGSilvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, et al.
Human Mutation|April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDGSander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
Molecular Therapy. Methods & Clinical Development|February 20, 2020
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA DiagnosisStijn L M In 't Groen, Douglas O S de Faria, Alessandro Iuliano, et al.
Journal of Inherited Metabolic Disease|January 18, 2023
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic associationHana Alharbi, Earnest James Paul Daniel, Jenny Thies, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 7, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiencyWillemijn J van Rijt, Emmalie A Jager, Derk P Allersma, et al.
Molecular Genetics and Metabolism|July 27, 2025
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort studySebastian Roesch, Anna O'Sullivan, Stefan Tschani, et al.
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