Research Explorer

Your browser does not support JavaScript or JavaScript is not enabled. Without JavaScript some functions of this webapplication may be disabled or cause error messages. To enable JavaScript, please consult the manual of your browser or contact your system administrator.

Project

Understanding human linkeropathies: study of the phenotypic and molecular consequences of defective biosynthesis of the glycosaminoglycan tetrasaccharide linker region.

Outputs and Outcomes

Publications

Pathogenic mechanisms in genetically defined Ehlers-Danlos syndromes

Delfien SyxFransiska Malfait

A1 Journal Article in TRENDS IN MOLECULAR MEDICINE

Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6‐deficient spondylodysplastic Ehlers–Danlos syndrome

Mahnaz NikpourFredrik NobornJonas NilssonTim Van DammeOlivier KayeDelfien SyxFransiska MalfaitGöran Larson

A2 Journal Article in JIMD REPORTS

Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes

Delfien SyxSarah DelbaereCatherine BuiAdelbert De ClercqGöran LarsonShuji MizumotoTomoki KoshoSylvie Fournel-GigleuxFransiska Malfait

A1 Journal Article in AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

The Ehlers–Danlos syndromes against the backdrop of inborn errors of metabolism

Tim Van DammeMarlies ColmanDelfien SyxFransiska Malfait

A1 Journal Article in GENES