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Cell lines were regularly monitored to be free of mycoplasma contamination and the identities of all were verified by STR profiling

doi:10.2174/138161206775474396

Most patients received magnesium sulphate supplementation within 24 h, with a median time to treatment of 2.873 (IQR 1.1807.272) h

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations