Riko Klootwijk

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

Belinda Galeano, Riko Klootwijk, Irini Manoli et al. · Journal of Clinical Investigation · 2007 · 197 citations · Full text

Introns are necessary for mRNA accumulation in <i>Schizophyllum commune</i>

Luis G. Lugones, Karin Scholtmeijer, Riko Klootwijk et al. · Molecular Microbiology · 1999 · 114 citations · Full text

A deletion encompassing Zic3 in Bent tail, a mouse model for X-linked neural tube defects

Riko Klootwijk · Human Molecular Genetics · 2000 · 73 citations

Genetics, Molecular Genetics, Social Sciences +17

Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy

Susan Sparks, Carla Ciccone, Molly Lalor et al. · Glycobiology · 2005 · 46 citations · Full text

Residual Enzyme Activity, Mendelian Disorder, Autoimmune Disease +13

Genetic variants in <i>ZIC1</i>, <i>ZIC2</i>, and <i>ZIC3</i> are not major risk factors for neural tube defects in humans

Riko Klootwijk, Pascal Groenen, Mascha M.V.A.P. Schijvenaars et al. · American Journal of Medical Genetics Part A · 2003 · 24 citations · Full text