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Journal of Neurology|January 1, 1993
Mitochondrial encephalomyopathy, lactic acidosis and stroke in adults: two casesH P Kremer, A Keyser, A R Wintzen, et al.Transplantation|May 1, 1987
Correction of lysosomal enzyme deficiency in various organs of beta-glucuronidase-deficient mice by allogeneic bone marrow transplantationP M Hoogerbrugge, B J Poorthuis, A H Mulder, et al.Clinical Genetics|February 24, 2010
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutationsD Hofer, K Paul, K Fantur, et al.Clinical Genetics|July 11, 1998
Clinical, biochemical and molecular findings in a two-generation Morquio A familyA Tylki-Szymańska, B Czartoryska, S Bunge, et al.Annals of Neurology|April 18, 1998
Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onsetA H Smelt, B J Poorthuis, W Onkenhout, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|February 28, 1990
A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A)O P van Diggelen, H Zhao, W J Kleijer, et al.Human Mutation|January 1, 1997
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndromeS Bunge, W J Kleijer, A Tylki-Szymanska, et al.European Journal of Pediatrics|February 1, 1992
Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutationF A Wijburg, D S Rosenblatt, G D Vos, et al.Human Genetics|September 10, 1999
The frequency of lysosomal storage diseases in The NetherlandsB J Poorthuis, R A Wevers, W J Kleijer, et al.Journal of Inherited Metabolic Disease|August 13, 1998
Identification of a common mutation (R245H) in Sanfilippo A patients from The NetherlandsB Weber, J J van de Kamp, W J Kleijer, et al.Pageof 6