Floris C. Hofstede

<i>IDH2</i> Mutations in Patients with <scp>d</scp> -2-Hydroxyglutaric Aciduria

Martijn Kranendijk, Eduard A. Struys, Emile Van Schaftingen et al. · Science · 2010 · 192 citations

Urology, Somatic Variant, Aldehyde Dehydrogenase +15

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu et al. · Journal of Medical Genetics · 2013 · 159 citations · Full text

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Keren Machol, Justine Rousseau, Sophie Ehresmann et al. · The American Journal of Human Genetics · 2018 · 88 citations · Full text

Metabolic Profiles in Children During Fasting

Merel R. van Veen, Peter M. van Hasselt, Monique G.M. de Sain–van der Velden et al. · PEDIATRICS · 2011 · 85 citations

Social‐cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU‐COBESO study

Rianne Jahja, Francjan J. van Spronsen, Leo de Sonneville et al. · Journal of Inherited Metabolic Disease · 2016 · 85 citations · Full text