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Bulletin De La Societe Belge D'Ophtalmologie|February 5, 2003
Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case reportS Pourjavan, J P Fryns, J L K Van Hove, et al.Nederlands Tijdschrift Voor Geneeskunde|October 15, 2005
[From gene to disease; Gaucher disease]C E M Hollak, R G Boot, B J H M Poorthuis, et al.Journal of Inherited Metabolic Disease|July 11, 2006
Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activitiesG J G Ruijter, P E C Mourad-Baars, E Ristoff, et al.Journal of Perinatology : Official Journal of the California Perinatal Association|January 18, 2008
Secretory phospholipase A(2) in newborn infants with sepsisA J J Schrama, A J de Beaufort, B J H M Poorthuis, et al.Biochimica Et Biophysica Acta|December 25, 2007
Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: correlations with disease severity and response to therapeutic interventionJ E M Groener, B J H M Poorthuis, S Kuiper, et al.Journal of Medical Genetics|October 3, 2009
Screening for Fabry disease in high-risk populations: a systematic reviewG E Linthorst, M G Bouwman, F A Wijburg, et al.Journal of Medical Genetics|August 8, 2013
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significanceL van der Tol, B E Smid, B J H M Poorthuis, et al.Journal of Inherited Metabolic Disease|September 13, 2007
Failure to detect Fabry patients in a cohort of prematurely atherosclerotic malesA C Vedder, V E A Gerdes, B J H M Poorthuis, et al.JIMD Reports|February 23, 2013
Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic ProcessE J Langereis, I E T van den Berg, D J J Halley, et al.Journal of Medical Genetics|December 13, 2006
Congenital disorder of glycosylation type Ia presenting with hydrops fetalisJ M van de Kamp, D J Lefeber, G J G Ruijter, et al.Pageof 2