Gaucher disease: from fundamental research to effective therapeutic interventionsDE FOST, M; AERTS, J. M. F. G; HOLLAK, C. E. M et al.Netherlands journal of medicine. 2003, Vol 61, Num 1, pp 3-8, issn 0300-2977, 6 p.Article

Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapyVAN DUSSEN, L; HENDRIKS, E. J; GROENER, J. E. M et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 6, pp 991-1001, issn 0141-8955, 11 p.Article

Markers of Bone Turnover in Gaucher Disease: Modeling the Evolution of Bone DiseaseVAN DUSSEN, L; LIPS, P; EVERTS, V. E et al.The Journal of clinical endocrinology and metabolism. 2011, Vol 96, Num 7, pp 2194-2205, issn 0021-972X, 12 p.Article

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type IIICOX-BRINKMAN, J; VAN BREEMEN, M. J; VAN MALDEGEM, B. T et al.Journal of inherited metabolic disease. 2008, Vol 31, Num 6, pp 745-752, issn 0141-8955, 8 p.Article

Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safeCOX-BRINKMAN, J; TIMMERMANS, R. G. M; WIJBURG, F. A et al.Journal of inherited metabolic disease. 2007, Vol 30, Num 6, pp 984-984, issn 0141-8955, 1 p.Article

Home treatment with intravenous enzyme replacement therapy for Gaucher disease : an international collaborative study of 33 patientsZIMRAN, A; HOLLAK, C. E. M; ABRAHAMOV, A et al.Blood. 1993, Vol 82, Num 4, pp 1107-1109, issn 0006-4971Article

Evaluation of an imaging biomarker, Dixon quantitative chemical shift imaging, in Gaucher disease: lessons learnedVAN DUSSEN, L; AKKERMAN, E. M; HOLLAK, C. E. M et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 6, pp 1003-1011, issn 0141-8955, 9 p.Article

Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicionLINTHORST, G. E; DE RIE, M. A; TJIAM, K. H et al.British journal of dermatology (1951). 2004, Vol 150, Num 3, pp 575-577, issn 0007-0963, 3 p.Article

Individualised low-dose alglucerase therapy for type 1 Gaucher's diseaseHOLLAK, C. E. M; AERTS, J. M. F. G; GOUDSMIT, R et al.Lancet (British edition). 1995, Vol 345, Num 8963, pp 1474-1478, issn 0140-6736Article

Marked elevation of plasma chitotriosidase activity : a novel hallmark of gaucher diseaseHOLLAK, C. E. M; VAN WEELY, S; VAN OERS, M. H. J et al.The Journal of clinical investigation. 1994, Vol 93, Num 3, pp 1288-1292, issn 0021-9738Article

Failure to detect Fabry patients in a cohort of prematurely atherosclerotic malesVEDDER, A. C; GERDES, V. E. A; POORTHUIS, B. J. H. M et al.Journal of inherited metabolic disease. 2007, Vol 30, Num 6, pp 988-988, issn 0141-8955, 1 p.Article

Oligosaccharide excretion in adult Gaucher diseaseDE JONG, J. G. N; AERTS, J. M. F. G; VAN WEELY, S et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 1, pp 49-59, issn 0141-8955Article

Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapyHOLLAK, C. E. M; LEVI, M; BERENDS, F et al.British journal of haematology. 1997, Vol 96, Num 3, pp 470-476, issn 0007-1048Article

Molecular and biochemical abnormalities of Gaucher disease : chitotriosidase, a newly identified biochemical markerAERTS, J. M. F. G; BOOT, R. G; RENKEMA, G. H et al.Seminars in hematology. 1995, Vol 32, Num 3, pp 10-13, issn 0037-1963, SUP1Conference Paper

Pathogenesis of lysosomal storage disorders as illustrated by Gaucher diseaseAERTS, J. M. F. G; VAN WEELY, S; BOOT, R et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 2, pp 288-291, issn 0141-8955Conference Paper

Plasma and metabolic abnormalities in Gaucher's diseaseAERTS, J. M. F. G; HOLLAK, C. E. M.Baillière's clinical haematology. 1997, Vol 10, Num 4, pp 691-709, issn 0950-3536Article

Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular diseaseDE FOST, M; LANGEVELD, M; HOLLAK, C. E. M et al.Atherosclerosis. 2009, Vol 204, Num 1, pp 267-272, issn 0021-9150, 6 p.Article

The Dutch Fabry cohort : Diversity of clinical manifestations and Gb₃ levelsVEDDER, A. C; LINTHORST, G. E; VAN BREEMEN, M. J et al.Journal of inherited metabolic disease. 2007, Vol 30, Num 1, pp 68-78, issn 0141-8955, 11 p.Article

Manifestations of Fabry disease in placental tissueVEDDER, A. C; STRIJLAND, A; VD BERGH WEERMAN, M. A et al.Journal of inherited metabolic disease. 2006, Vol 29, Num 1, pp 106-111, issn 0141-8955, 6 p.Article

Clinically relevant therapeutic endpoints in type I Gaucher diseaseHOLLAK, C. E. M; MAAS, M; AERTS, J. M et al.Journal of inherited metabolic disease. 2001, Vol 24, pp 97-105, issn 0141-8955, SUP2Conference Paper

Differential effects of enzyme supplementation therapy on manifestations of type 1 Gaucher diseaseHOLLAK, C. E. M; CORSSMIT, E. P. M; AERTS, J. M. F. G et al.The American journal of medicine. 1997, Vol 103, Num 3, pp 185-191, issn 0002-9343Article

Elevated plasma chitotriosidase activity in various lysosomal storage disordersYUFENG GUO; WANG HE; BOER, A. M et al.Journal of inherited metabolic disease. 1995, Vol 18, Num 6, pp 717-722, issn 0141-8955Article

Failure of zidovudine prophylaxis after accidental exposure to HIV-1LANGE, J. M. A; BOUCHER, C. A. B; HOLLAK, C. E. M et al.The New England journal of medicine. 1990, Vol 322, Num 19, pp 1375-1377, issn 0028-4793Article