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

The spondylodysplastic type of Ehlers–Danlos syndrome (spEDS) is caused by genetic defects in the B4GALT7 or B3GALT6 genes both deranging the biosynthesis of the glycosaminoglycan linkage region of chondroitin/dermatan sulfate and heparan sulfate proteoglycans. In this study, we have analyzed the li...

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Detalles Bibliográficos
Autores principales:	Nikpour, Mahnaz, Noborn, Fredrik, Nilsson, Jonas, Van Damme, Tim, Kaye, Olivier, Syx, Delfien, Malfait, Fransiska, Larson, Göran
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2022
Materias:	Research Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458601/ https://www.ncbi.nlm.nih.gov/pubmed/36101818 http://dx.doi.org/10.1002/jmd2.12311

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