6 results on '"van Kuilenburg, André B.P."'
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2. β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity
3. Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers
4. Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity
5. Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease
6. Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency
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