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The Journal of Dermatology|June 26, 2024
Quality of life in children with erythropoietic protoporphyria: a case-control studyLouisa G Kluijver, Debby Wensink, Margreet A E M Wagenmakers, et al.Orphanet Journal of Rare Diseases|March 21, 2021
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trialPeter Witters, Hans Andersson, Jaak Jaeken, et al.Frontiers in Pediatrics|June 20, 2018
Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current PracticeKathrin Burgmaier, Joy Brandt, Rukshana Shroff, et al.Orphanet Journal of Rare Diseases|February 26, 2021
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history studyPeter Witters, Andrew C Edmondson, Christina Lam, et al.Journal of Immunology (Baltimore, Md. : 1950)|April 22, 2004
Human T cell activation by costimulatory signal-deficient allogeneic cells induces inducible costimulator-expressing anergic T cells with regulatory cell activityJan Vermeiren, Jan L Ceuppens, Marijke Van Ghelue, et al.Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|September 8, 2009
Non-invasive liver elastography (Fibroscan) for detection of cystic fibrosis-associated liver diseasePeter Witters, Kris De Boeck, Lieven Dupont, et al.Molecular Metabolism|June 30, 2022
Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunctionIsabelle Adant, Matthew Bird, Bram Decru, et al.The Journal of Clinical Endocrinology and Metabolism|March 22, 2017
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation DefectsWilly Morelle, Sven Potelle, Peter Witters, et al.JIMD Reports|February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patientsHossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.Metabolites|October 30, 2019
Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial DiseaseMatthew J Bird, Isabelle Adant, Petra Windmolders, et al.Pageof 8