DSpace at RU >

Browsing by Author Diggelen, O.P. van

Full Text	Issue Date	Title	Author(s)
	2010	Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.	Valstar, M.J.; Neijs, S.; Bruggenwirth, H.T.; Olmer, R.; Ruijter, G.J., et al
	2010	Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.	Valstar, M.J.; Bertoli-Avella, A.M.; Wessels, M.W.; Ruijter, G.J.; Graaf, B. de, et al
	2007	Null mutations and lethal congenital form of glycogen storage disease type IV.	Assereto, S.; Diggelen, O.P. van; Diogo, L.; Morava, E.; Cassandrini, D., et al
	2006	Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).	Hrebicek, M.; Mrazova, L.; Seyrantepe, V.; Durand, S.; Roslin, N.M., et al
	2005	External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study.	Ruijter, G.J.; Boer, M. de; Weykamp, C.W.; Vries, R. de; Berg, I. den, et al
	2005	Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.	Morava, E.; Wortmann, S.B.; Essen, H.Z. van; Liebrand van Sambeek, R.; Wevers, R.A., et al
	2004	Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.	Hout, J.M. van den; Kamphoven, J.H.; Winkel, L.P.; Arts, W.F.M.; Klerk, J.B.C. de, et al
	2004	Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.	Martin, M.A.; Rubio, J.C.; Wevers, R.A.; Engelen, B.G.M. van; Steenbergen-Spanjers, G.C.H., et al
	1997	Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation : Clinical, biochemical and DNA analyses in a four-generation family	Ausems, M.G.E.M.; Bakker, E.; Berger, R.A.; Duran, M.; Diggelen, O.P. van, et al
	1996	Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation	Diggelen, O.P. van; Zaremba, J.; He, W.; Keulemans, J.L.M.; Boer, A.M., et al
	1996	Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype	Keulemans, J.L.M.; Reuser, A.J.J.; Kroos, M.A.; Willemsen, R.; Hermans, M.M.P., et al
	1995	Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology	Mourmans, J.; Bakkeren, J.A.J.; Jong, J.G.N. de; Wevers, R.A.; Diggelen, O.P. van, et al
	1995	Elevated plasma chitotriosidase activity in various lysosomal storage disorders.	Yufeng, G.; Wang, H.; Boer, A.M.; Wevers, R.A.; Bruijn, A.M. de, et al
	1995	Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology.	Mourmans, J.; Bakkeren, J.A.J.; Jong, J.G.N. de; Wevers, R.A.; Diggelen, O.P. van, et al
	1995	Glycogen storage disease type II : frequency of three common mutant alleles and their associated clinical phenotypes studies in 121 patients	Kroos, M.A.; Kraan, M. van der; Diggelen, O.P. van; Kleijer, W.J.; Reuser, A.J.J., et al