JIMD Rep

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

Nikpour M, Noborn F, Nilsson J, ..., Malfait F, Larson G

JIMD Rep 63 (5) 462-467 [2022-09-00; online 2022-06-28]

Glycoproteomics and MS Proteomics [Collaborative]

Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.

Jensen KV, Frid M, Stödberg T, ..., Darin N, Grønborg S

JIMD Rep 50 (1) 1-8 [2019-11-00; online 2019-09-30]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]