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Project

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

Information

Project Team

Outputs and Outcomes

Publications

Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms

Marlies ColmanRobin VromanTibbe DhoogeZoë MalfaitSofie SymoensBiruté BurnytéSheela NampoothiriAriana KariminejadFransiska MalfaitDelfien Syx

A1 Journal Article in HUMAN MUTATION

2022

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

2022

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

Tim Van DammeMarlies ColmanDelfien SyxFransiska Malfait

A1 Journal Article in GENES

2022