Bosch, J. van den

sialic sialic acid sample disease fibroblast storage protein value salla disease reference values afs samples method hydrops fetalis reference hydrop fetali salla concentration control fluid −20° c fibroblast homogenates homogenate assay pregnancy 25 μ l age 15–25 weeks −80° c determination range sample preparation diagnosis analysis procedure patient detection lysosomal disorder screening lc-ms /ms metab fsa concentration van der ham 11 afs samples sialyllactose ion exchange chromatography verheijen control pregnancies age 26–38 weeks mutation analysis nmol /mg protein lysosomal storage disorders water genet limit hydrops fetalis pregnancies sialin urine inter-assay variation quantification piraud renlund mutation −20° issd pregnancies variation 2011 / qc samples 15–25 spectrum prinsen bhcmt fsa values preparation cell pellet tietze f fsa determination thiobarbituric assay sialin gene addition flow rate