Management of neuronopathic Gaucher disease: A European consensus
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B. Bembi | A. Rolfs | A. Tylki-Szymańska | A. Vellodi | T. D. de Villemeur | E. Mengel | A. Erikson | T. Collin-Histed | T. B. D. Villemeur
[1] A. Tylki-Szymańska,et al. Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease. , 2000, Clinical biochemistry.
[2] C. Harris,et al. Ocular motor abnormalities in Gaucher disease. , 1999, Neuropediatrics.
[3] Y. Eto,et al. Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation , 1999, Human Genetics.
[4] D. Elstein,et al. Ethical considerations for enzyme replacement therapy in neuronopathic Gaucher disease , 1998, Clinical genetics.
[5] G. Luc,et al. Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay , 1998, Clinical genetics.
[6] R. Schiffmann,et al. 5 Neuronopathic forms of Gaucher's disease , 1997 .
[7] G. Addison. The Metabolic and Molecular Bases of Inherited Disease CD-ROM (Version 1.0) Edited by C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle , 1997, Journal of Inherited Metabolic Disease.
[8] J. Dambrosia,et al. Prospective study of neurological responses to treatment with macrophage‐targeted glucocerebrosidase in patients with type 3 Gaucher's disease , 1997, Annals of neurology.
[9] C. Prows,et al. Gaucher disease: enzyme therapy in the acute neuronopathic variant. , 1997, American journal of medical genetics.
[10] R. Schiffmann,et al. Neuronopathic forms of Gaucher's disease. , 1997, Bailliere's clinical haematology.
[11] A. Tylki-Szymańska,et al. Types I and III Gaucher Disease in Poland: Incidence of the Most Common Mutations and Phenotypic Manifestations , 1996, European journal of human genetics : EJHG.
[12] V. Gross‐Tsur,et al. Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype , 1995, The Lancet.
[13] K. Bove,et al. Pathological findings in Gaucher disease type 2 patients following enzyme therapy. , 1995, Human pathology.
[14] O. Ringdén,et al. Ten years' experience of bone marrow transplantation for Gaucher disease. , 1995, Transplantation.
[15] Y. Suzuki,et al. New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P. , 1994, Human molecular genetics.
[16] M. Patterson,et al. Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease , 1993, Neurology.
[17] J. Månsson,et al. Enzyme Replacement Therapy of Infantile Gaucher Disease , 1993, Neuropediatrics.
[18] N. Conradi,et al. Rapidly Progressive Type III Gaucher Disease: Deterioration Following Partial Splenectomy , 1990, Acta paediatrica Scandinavica.
[19] E. Beutler,et al. PREDICTION OF SEVERITY OF GAUCHER'S DISEASE BY IDENTIFICATION OF MUTATIONS AT DNA LEVEL , 1989, The Lancet.
[20] A. Erikson. Gaucher disease‐Norrbottnian type (III) , 1986, Acta paediatrica Scandinavica. Supplement.
[21] E. Veys,et al. HL-A AND INFECTIVE SACROILEITIS , 1974 .