Minke H. de Ru

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

Minke H. de Ru, Jaap Jan Boelens, Anibh M. Das et al. · Orphanet Journal of Rare Diseases · 2011 · 234 citations · Full text

Medicine, Hematology, Pathology +8

Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype

Frédéric M. Vaz, Coen C. Paulusma, Hidde H. Huidekoper et al. · Hepatology · 2014 · 212 citations · Full text

Life Sciences, Biochemistry, Clinical Nutrition +16

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

Jessica de Ruijter, Minke H. de Ru, Tom Wagemans et al. · Molecular Genetics and Metabolism · 2012 · 105 citations

Life Sciences, Biochemistry, Clinical Biochemistry +8

Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long‐term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans

Minke H. de Ru, Linda van der Tol, Naomi van Vlies et al. · Journal of Inherited Metabolic Disease · 2012 · 48 citations · Full text

Life Sciences, Biochemistry, Pharmacokinetics +14

Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening

Minke H. de Ru, Machtelt G. Bouwman, Frits A. Wijburg et al. · Molecular Genetics and Metabolism · 2012 · 36 citations

Medicine, Genetics, Pediatrics +15