Fokje Zijlstra

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen et al. · Nature Genetics · 2016 · 163 citations · Full text

Developmental Biology, Biochemistry, Brain Development +7

Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency

Udo F. H. Engelke, Fokje Zijlstra, Fanny Mochel et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2010 · 55 citations · Full text

Mitochondrial Biogenesis, Biochemistry, Mitochondrial Function +8

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

Xiao‐Yan Wen, Maja Tarailo‐Graovac, Koroboshka Brand‐Arzamendi et al. · JCI Insight · 2018 · 54 citations · Full text

Muscle Function, Sialic Acid Biosynthesis, Glycobiology +18

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the<i>CARKL</i>gene

Mirjam M. C. Wamelink, Eduard A. Struys, Erwin E. W. Jansen et al. · Human Mutation · 2008 · 46 citations

Urological Research, Urology, Signal Transduction +12

Unusual cerebrotendinous xanthomatosis with fronto‐temporal dementia phenotype

Lucie Guyant‐Maréchal, Aad Verrips, Carole Girard et al. · American Journal of Medical Genetics Part A · 2005 · 45 citations