246 citations
,
February 2021 in “Trends in Pharmacological Sciences” This review discusses drug repurposing strategies for rare diseases, highlighting methodologies, achievements, and challenges, but reports no new clinical results.
22 citations
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July 2010 in “Drug Testing and Analysis” This study presents a rapid method for detecting multiple xenobiotics in urine, effectively identifying 45 compounds banned in sports with detection limits below WADA's performance levels.
8 citations
,
May 2022 in “Orphanet Journal of Rare Diseases” This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.
13 citations
,
October 2010 in “Pharmacogenomics” This study constructed a panel of pharmacokinetic and pharmacodynamic genes, revealing that current SNP chips insufficiently capture many drug-response gene variants, highlighting the need for complementary genetic approaches.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” This study reports that the Swedish newborn screening program for phenylketonuria, galactosaemia, and biotinidase deficiency is effective, with high sensitivity and specificity, and lower false positive rates compared to other countries, while genetic variants impact detection and incidence patterns in Sweden.