J.F. de Rijk-van Andel

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Michèl A.A.P. Willemsen, Marcel M. Verbeek, Erik‐Jan Kamsteeg et al. · Brain · 2010 · 228 citations · Full text

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

Lambert P.W.J. van den Heuvel, Bernadette Luiten, J.F. de Rijk-van Andel et al. · Human Genetics · 1998 · 109 citations

Tyrosine Hydroxylase Gene, Mendelian Disorder, Genetic Disorder +5

Biochemical hallmarks of tyrosine hydroxylase deficiency

Christa Bräutigam, Ron A. Wevers, Riet J T Jansen et al. · Clinical Chemistry · 1998 · 104 citations · Full text

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

J. J. T. van Harssel, Sarah Weckhuysen, Marjan J. A. van Kempen et al. · Neurogenetics · 2013 · 77 citations

Pcdh19-related Epilepsy Syndromes, Mendelian Disorder, Autism Spectrum Disorders +8

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis

S. Gr�newald, Timo Imbach, Karin Huijben et al. · Annals of Neurology · 2000 · 70 citations