Bianca T. van Maldegem

Clinical, Biochemical, and Genetic Heterogeneity in Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Bianca T. van Maldegem, Marinus Durán, Ronald J. A. Wanders et al. · JAMA · 2006 · 136 citations

Life Sciences, Genetics, Pediatrics +17

Hepatocellular Carcinoma in Hereditary Tyrosinemia Type I Despite 2-(2 Nitro-4-3 Trifluoro- Methylbenzoyl)-1, 3-Cyclohexanedione Treatment

Francjan J. van Spronsen, C. M. A. Bijleveld, Bianca T. van Maldegem et al. · Journal of Pediatric Gastroenterology and Nutrition · 2004 · 94 citations

Medicine, Biochemistry, Oncology +17

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III

Josanne Cox‐Brinkman, Mariëlle J. van Breemen, Bianca T. van Maldegem et al. · Journal of Inherited Metabolic Disease · 2008 · 41 citations

Life Sciences, Genetics, Molecular Genetics +16

Flavin Adenine Dinucleotide Status and the Effects of High-Dose Riboflavin Treatment in Short-Chain Acyl-CoA Dehydrogenase Deficiency

Bianca T. van Maldegem, Marinus Durán, Ronald J. A. Wanders et al. · Pediatric Research · 2010 · 32 citations

Life Sciences, Biochemistry, Molecular Biology +14

The 625G>A SCAD gene variant is common but not associated with increased C₄‐carnitine in newborn blood spots

Bianca T. van Maldegem, Hans R. Waterham, M. Durán et al. · Journal of Inherited Metabolic Disease · 2004 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3