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Usable Security und Privacy
(2010)
Eine internationale Verbreitung von OER ist u. a. davon abhängig, ob bereitstehende Inhalte an den jeweiligen Kontext angepasst werden können. Dieser Beitrag befasst sich mit studierendenspezifischen, kulturell motivierten Einflussfaktoren auf Lernsituationen, die neben u. a. inhaltlichen, technischen, didaktischen und rechtlichen Fragen für eine erfolgreiche Wiederverwendung von bereits etablierten Lernressourcen prüfend berücksichtigt werden sollten.
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients
(2010)
Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD
(2010)
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia
(2010)
The aim of the study was to develop a method for fast and reliable diagnosis of peroxisomal diseases and to facilitate differential diagnosis of cholestatic hepatopathy. For the quantification of bile acids and their conjugates as well as C(27) precursors di- and trihydroxycholestanoic acid (DHCA, THCA), in small pediatric blood samples we combined HPLC separation on a reverse-phase C18 column with ESI-MS/MS analysis in the negative ion mode. Analysis was done with good precision (CV 3,7%-11.1%) and sufficient sensitivity (LOQ: 11-91 nmol/L) without derivatization. Complete analysis of 17 free and conjugated bile acids from dried blood spots and 10 microL serum samples, respectively, was performed within 12 min. Measurement of conjugated primary bile acids plus DHCA and THCA as well as ursodeoxycholic acid was done in 4.5 min. In blood spots of healthy newborns, conjugated primary bile acids were found in the range of 0.01 to 2.01 micromol/L. Concentrations of C(27) precursors were below the detection limit in normal controls. DHCA and THCA were specifically elevated in cases of peroxysomal defects and one Zellweger patient.