zu Morbus Gaucher.

  1. Barranger JA, Ginns EL (1989) Glucosylceramide lipidoses: Gaucher disease. In: The Metabolic Basis of Inherited Disease, 6th ed. New York: Mc Graw-Hill, 1677-1698
  2. Barton DJ, Ludman MD, Benkov K, Grabowski GA, LeLeiko NS (1989) Resting energy expenditure in Gaucher’s disease type 1: effect of Gaucher’s cell burden on energy requirements. Metabolism 38:1238-43
  3. Barton N, Brady R, Dambrosia J, Bisgeglie A, Doppelt S, Hill S, Mankin H, Murray G, Parker R, Argoff C, Grewal R, Kian-Ti YU (1991) Replacement therapy for inherited enzyme deficiency: macrophage-targeted glucocerebrosidase for Gaucher’s disease. N Engl J Med 324:1464-1470
  4. Beutler E, Kay A, Saven A, Garver P, Thurston D, Rosenbloom B (1991) Enzyme replacement therapy for Gaucher disease. Blood 78:1183-1189
  5. Beutler E, Saven A (1990) Misuse of marrow examination in the diagnosis of Gaucher disease. Blood 76:646-648
  6. Brady RO, Kanfer JN, Bradley RM, Shapiro D (1966) Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher’s disease. J Clin Invest 45:1112-1115
  7. Brady K, Corash L, Bhargava V (1997) Multiple myeloma arising from monoclonal gammopathy of undetermined significance in a patient with Gaucher’s disease. Arch Pathol Lab Med 121:1108-11
  8. Cremin BJ, Davey H, Goldblatt J (1990) Skeletal complications of type 1 Gaucher Disease: The magnetic resonance features. Clin Rad 41:244-247
  9. vom Dahl S, Niederau C, Häussinger D (1998) Loss of vision in Gaucher’s disease and it’s reversal by enzyme replacement therapy. N Engl J Med 338:1471-1472
  10. Erikson A, Aström M, Mannson JE (1995) Enzyme infusion therapy of the Norbottnian (type 3) Gaucher disease. Neuropediatrics 26:203-07
  11. Finckh U, Seeman P, Cardinal von Widdern O, Rolfs A (1998). Simple PCR amplification of the entire glucocerebrosidase gene (GBA) coding region for diagnostic sequence analysis. DNA Sequence – J DNA Sequen Mapp, 8:349-356
  12. Goldblatt J, Beighton P (1984) Cutaneous manifestations of Gaucher Disease. Br J Derm 11:331-334
  13. Goldblatt J, Sacks S, Beighton P (1978) The orthopedic aspects of Gaucher disease. Clin Orthop 137:208-214
  14. Goldblatt J (1988) Type I Gaucher disease. J Med Genet 25:415-418
  15. Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Banerjee TK, McKee MA, Parker C, Schiffmann R, Hill SC, Brady RO (1955) Enzyme therapy in type 1 Gaucher disease: Comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 122:33-39
  16. Hollak CE, van Weely S, van Oers MH, Aerts JM (1994) Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest. 93:1288-92
  17. Hollak C , Aerts J, Goudsmit R, Phoa S, Ek M, van Weely S, von dem Borne A, van Oers M (1995) Individualised low-dose alglucerase therapy for type 1 Gaucher’s disease. Lancet II: 1774-78
  18. Hollak CE, Corssmit EP, Aerts JM, Endert E, Sauerwein HP, Romijn JA, van Oers MH (1997) Differential effects of enzyme supplementation therapy on manifestation of type 1 Gaucher disease. Am J Med 103 (3):185-191
  19. Ida H, Rennert OM, Kato S, Ueda T, Oishi K, Maekawa K, Eto Y (1999) Severe skeletal complications in Japanese patients with type 1 Gaucher disease. J Inherit Metab Dis. 22:63-73
  20. Kaplan P, Mazur A, Manor O, Charrow J, Esplin J, Gribble TJ, Wappner RS, Wisch JS, Weinreb NJ (1996) Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase. J Pediatr 129:149-53
  21. Niederau C, Holderer A, Heintges T, Strohmeyer G (1994) Glucocerebrosidase for treatment of Gaucher’s disease: first German long-term results. J Hepatol 21:610-617
  22. Niederau C, Ehlen C, Birkhahn A, Häussinger D (1996) Facts and fiction in the modern diagnosis of Gaucher disease. Gaucher Clin Perspect 4:5-13
  23. Perales M, Cervantes F, Cobo F, Montserrat E (1998) Non-Hodgkin’s lymphoma associated with Gaucher’s disease. Leuk Lymphoma. 31:609-12
  24. Poll LW, Koch JA, vom Dahl S, Niederau C, Häussinger D, Mödder U (1999) MR imaging of bone marrow changes in “Gaucher disease” under enzyme replacement therapy: first German long-term results. Eur Radiol 1999; Suppl. 1 (9): 41
  25. Poll LW, Koch JA, vom Dahl S, Sarbia M, Niederau C, Häussinger D, Mödder U (2000a) Type I gaucher disease: extraosseous extension of skeletal disease. Skleletal Radiol 29:15-21
  26. Poll LW, Koch JA, vom Dahl S, Sarbia M, Häussinger D, Mödder U (2000b) Gaucher disease of the spleen: CT and MR appearance. Abdominal Imaging 25: 286-289
  27. Poll LW, Koch JA, vom Dahl S, Willers R, Boerner D, Niederau C, Häussinger D, Mödder U (2000c) Magnetic resonance imaging of bone marrow changes in Gaucher disease during enzyme replacement therapy: first german long-term results. Skeletal Radiol, eingereicht, 2000
  28. Ponce E, Moskovitz J, Grabowski G (1997) Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase. Blood. 90:43-48
  29. Rolfs A, Heinrich U, Albrecht B, Bauer P, Maeser S, Harzer K. Epidemiologic data in M. Gaucher disease in the Caucasian population – usage of a simple ELISA – detection based PCR – format for the screening of the most frequent mutations. Biotechniques, eingereicht, 2000a
  30. Rolfs A, Maeser S, Knoblich R, Albrecht B, Schöpa F, Kirchhoff U, Mix E, Finckh U, Harzer K. Clinical course and therapy of chronic neuronopathic Gaucher disease in 13 caucasian patients – a 3 year prospective follow-up study. Ann Neurol eingereicht, 2000b
  31. Rosenthal DI, Scott JA, Barranger J, Mankin HJ, Saini S, Brady TJ, Osier LK, Doppelt S (1986) Evaluation of Gaucher Disease using MRI. J Bone Joint Surg 6:801-807
  32. Rosenthal DI, Doppelt SH, Mankin HJ (1995) Enzyme replacement therapy for Gaucher disease: Skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics 96:629-637
  33. Rosenthal DI, Mayo-Smith W, Goodsitt MM, Doppelt S, Mankin HJ (1989) Bone and bone marrow changes in Gaucher Disease: Evaluation with quantitative CT. Radiology 170:143-146
  34. Shiran AB, Brenner A, Laor I, Tatarsky I (1993) Increased risk of cancer in patients with Gaucher disease. Cancer 72:219-224
  35. Smanik EJ, Tavill AS, Jacobs GH, Schafer IA, Farquhar L, Weber FL Jr, Mayes JT, Schulak JA, Petrelli M, Zirzow GC et al (1993) Orthotopic liver transplantation in two adults with Nieman-Pick and Gaucher’s disease: implications for the treatment of inherited metabolic disease. Hepatology 17:42-49
  36. Starzl TE, Demetris AJ, Trucco M, Ricordi C, Ildstad S, Terasaki PI, Murase N, Kendall RS, Kocova M, Rudert WA, et al (1993) Chimerism after liver transplantation for type IV glycogen storage disease and type I Gaucher’s disease. N Engl J Med 328:745-749
  37. Stowens DW, Teitelbaum SL, Kahn AJ, Barranger JA (1985) Skeletal complications of Gaucher disease. Medicine 64:310-322
  38. Vellodi A, Bembi B, Billete de Villemeur T, Collin-Histed T, Erikson A, Mengel E, Rolfs A, Tylki-Szymanski A (for the European Gaucher Society). Management of neuronopathic Gaucher disease – a European Consensus. J Metab Inhert Dis (zur Publikation eingereicht)
  39. Yu L, Stahl SK, Dave HPG, Schiffman R, Correll PH, Kessler S, Karlsson S (1994) Correction of the enzyme deficiency in hematopoietic cells of Gaucher patients using a clinically acceptable retroviral supernatant transduction protocol. Exp Hematol 22:223-230
  40. Zaizov R, Frisch A., Cohen IJ (1995) Lower-dose, high-frequency enzyme replacement therapy in children with Type I Gaucher Disease Experience at the Schneider Children’s Medical Center of Israel. Semin Hematol 32:39-44
  41. Zimran A., Gelbart T, Westwood B, Grabowski GA, Beutler E (1991) High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi jews. Am J Hum Genet 49:855-859