Serum bikunin is a biomarker of linkeropathies
Author:
Funder
European Union's Horizon 2020
ERA-NET
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
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2. Defect in SHAP-hyaluronan complex causes severe female infertility. A study by inactivation of the bikunin gene in mice;Zhuo;J. Biol. Chem.,2001
3. Chondrodysplasia with multiple dislocations: comprehensive study of a serie of 30 cases;Ramza;Clin. Genet.,2017
4. Complementarity of electrophoretic, mass spectrometric and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation;Bruneel;Electrophoresis,2018
5. Differences in gene expression of human xylosyltransferases and determination of acceptor specificities for various proteoglycans;Roch;Biochem. Biophys. Res. Commun.,2010
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2. Congenital disorders of glycosylation (CDG): state of the art in 2022;Orphanet Journal of Rare Diseases;2023-10-19
3. Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes;American Journal of Physiology-Cell Physiology;2022-12-01
4. The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism;Genes;2022-01-29
5. Inherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker;Genes;2021-10-20
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