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Biochimica Et Biophysica Acta. General Subjects|August 6, 2021
The evolving genetic landscape of congenital disorders of glycosylationMatthew P Wilson, Gert MatthijsMolecular Genetics and Metabolism|September 3, 2025
Genetic disorders of dolichol synthesis and utilizationEline Pieters, Jaak Jaeken, Matthew P WilsonJournal of Inherited Metabolic Disease|January 24, 2019
Disorders affecting vitamin B<sub>6</sub> metabolismMatthew P Wilson, Barbara Plecko, Philippa B Mills, et al.Science Advances|January 31, 2024
N-glycosylation as a eukaryotic protective mechanism against protein aggregationRamon Duran-Romaña, Bert Houben, Matthias De Vleeschouwer, et al.Human Genetics|February 19, 2022
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylationEline Blommaert, Natalia A Cherepanova, Frederik Staels, et al.The Journal of Pharmacy and Pharmacology|February 22, 2017
Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsyAbeer H A Mohamed-Ahmed, Matthew P Wilson, Maedelyn Albuera, et al.Journal of Inherited Metabolic Disease|July 22, 2024
Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiencyYoussef Khalil, Emma Footitt, Reddy Vootukuri, et al.JIMD Reports|March 17, 2021
SLC37A4-CDG: Second patientMatthew P Wilson, Dulce Quelhas, Elisa Leão-Teles, et al.Biorxiv : the Preprint Server for Biology|July 1, 2024
The N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX geneTakfarinas Kentache, Charlotte R Althoff, Francesco Caligiore, et al.The Journal of Biological Chemistry|October 12, 2024
Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cellsTakfarinas Kentache, Charlotte R Althoff, Francesco Caligiore, et al.Pageof 2