Authors: Schollen, E Dorland, L de Koning, TJ Van Diggelen, OP Huijmans, JGM Marquardt, T Babovic-Vuksanovic, D Patterson, M Imtiaz, F Winchester, B Adamowicz, M Pronicka, E Freeze, H Matthijs, G

Citation: E. Schollen et al., Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib), HUM MUTAT, 16(3), 2000, pp. 247-252

Authors: van den Ouweland, JMW de Klerk, JBC van de Corput, MP Dirks, RW Raap, AK Scholte, HR Huijmans, JGM Hart, LMT Bruining, GJ Maassen, JA

Citation: Jmw. Van Den Ouweland et al., Characterization of a novel mitochondrial DNA deletion in a patient with avariant of the Pearson marrow-pancreas syndrome, EUR J HUM G, 8(3), 2000, pp. 195-203

Authors: Kleijer, WJ Geilen, GC Garritsen, V Huijmans, JGM Los, FJ Voznyi, YV van Diggelen, OP

Citation: Wj. Kleijer et al., First-trimester diagnosis of Morquio disease type A, PRENAT DIAG, 20(3), 2000, pp. 183-185

Authors: Huijmans, JGM Duran, M de Klerk, JBC Rovers, MJ Scholte, HR

Citation: Jgm. Huijmans et al., Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: Effect of treatment, PEDIATRICS, 106(3), 2000, pp. 596-600

Authors: Palmeri, S Villanova, M Malandrini, A van Diggelen, OP Huijmans, JGM Ceuterick, C Rufa, A DeFalco, D Ciacci, G Martin, JJ Guazzi, G

Citation: S. Palmeri et al., Type I sialidosis: A clinical, biochemical and neuroradiological study, EUR NEUROL, 43(2), 2000, pp. 88-94

Authors: Mancini, GMS Stojanov, L Willemsen, R Kleijer, WJ Huijmans, JGM van Diggelen, OP de Klerk, JBC Vuzevski, VD Oranje, AP

Citation: Gms. Mancini et al., Juvenile hyaline fibromatosis: Clinical heterogeneity in three patients, DERMATOLOGY, 198(1), 1999, pp. 18-25