4 Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier 77 List of abbreviations GAG: glycosaminoglycan GBM: glomerular basement membrane GFB: glomerular filtration barrier HME: hereditary multiple exostoses HS: Heparan sulfate MO: multiple osteochondromas PBR: perfused boundary region RBC(w): red blood cell (width) Ethics approval and consent to participate Ethical approval for this study was obtained through the LUMC Medical Ethical Committee under registration number P15.106. Patient material from the PALGA search was handled in accordance with institutional guidelines, Good Research Practice, and the Code of conduct for responsible use. Consent for publication Not applicable Competing interests No potential conflicts of interest relevant to this article were reported. Funding No external funding was used in this study. Authors’ contributions RK designed and performed experiments, analyzed and interpreted data, and wrote the paper. MGSB designed and performed experiments, and analyzed and interpreted data. PALGA group, consisting of those mentioned in the acknowledgements section, provided clinical data and material from the Dutch pathological anatomy national automated archive. JAB and TJR made substantial contributions to the conception and design of the work. BB, PCWH, and HJB made substantial contributions to the conception and design of the work, interpretation of data, and revisions of the manuscript. All authors read and approved the final manuscript.
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