• 1
    Grabowski G, Kolodny E, Weinreb N, Rosenbloom B, Prakash-Cheng A, Kaplan P, Charrow J, Pastores G, Mistry P. Gaucher disease: phenotypic and genetic variation. In: Scriver C, Beaudet A, Valle D, Sly W, editors. The online metabolic and molecular basis of inherited metabolic disease. New York: McGraw-Hill Publishers; 2010. Chapter 146.1.
  • 2
    Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000 Oct 9; 160(18):283543.
  • 3
    Fairley C, Zimran A, Phillips M, Cizmarik M, Yee J, Weinreb N, Packman S. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry. J Inherit Metab Dis. 2008 Dec; 31(6):73844.
  • 4
    Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ. Type 1 Gaucher disease: significant disease manifestations in “asymptomatic” homozygotes. Arch Intern Med. 2010 Sep 13; 170(16):14639.
  • 5
    Wenstrup RJ, Roca-Espiau M, Weinreb NJ, Bembi B. Skeletal aspects of Gaucher disease: a review. Br J Radiol. 2002;75(Suppl 1):A212.
  • 6
    Giraldo P, Solano V, Perez-Calvo JI, Giralt M, Rubio-Felix D. Quality of life related to type 1 Gaucher disease: Spanish experience. Qual Life Res. 2005 Mar; 14(2):45362.
  • 7
    Stirnemann J, Belmatoug N, Vincent C, Fain O, Fantin B, Mentre F. Bone events and evolution of biologic markers in Gaucher disease before and during treatment. Arthritis Res Ther. 2010;12(4):R156.
  • 8
    Deegan PB, Pavlova E, Tindall J, Stein PE, Bearcroft P, Mehta A, Hughes D, Wraith JE, Cox TM. Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy. Medicine (Baltimore). 2011 Jan; 90(1):5260.
  • 9
    Yeh M, Weinreb N, Deegan P, Vellodi A, Cole J, Mistry P. Avascular necrosis in untreated patients with type 1 Gaucher disease. Mol Genet Metab. 2009;98:62.
  • 10
    Mistry PK, Deegan P, Vellodi A, Cole JA, Yeh M, Weinreb NJ. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. Br J Haematol. 2009 Nov; 147(4):56170.
  • 11
    Lutsky KF, Tejwani NC. Orthopaedic manifestations of Gaucher disease. Bull NYU Hosp Jt Dis. 2007;65(1):3742.
  • 12
    Wenstrup RJ, Kacena KA, Kaplan P, Pastores GM, Prakash-Cheng A, Zimran A, Hangartner TN. Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res. 2007 Jan; 22(1):11926.
  • 13
    Mistry PK, Weinreb NJ, Kaplan P, Cole JA, Gwosdow AR, Hangartner T. Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol Dis. 2011 Jan 15; 46(1):6672.
  • 14
    Pastores GM. Gaucher's disease. Pathological features. Baillieres Clin Haematol. 1997 Dec; 10(4):73949.
  • 15
    Goldblatt J, Sacks S, Beighton P. The orthopedic aspects of Gaucher disease. Clin Orthop Relat Res. 1978 Nov-Dec; (137): 20814.
  • 16
    Butora M, Kissling R, Frick P. Bone changes in Gaucher disease. Z Rheumatol. 1989 Nov-Dec; 48(6):32630.
  • 17
    Mistry PK, Liu J, Yang M, Nottoli T, McGrath J, Jain D, Zhang K, Keutzer J, Chuang WL, Mehal WZ, Zhao H, Lin A, Mane S, Liu X, Peng YZ, Li JH, Agrawal M, Zhu LL, Blair HC, Robinson LJ, Iqbal J, Sun L, Zaidi M. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci U S A. 2010 Nov 9; 107(45):194738.
  • 18
    Dekker N, van Dussen L, Hollak CE, Overkleeft H, Scheij S, Ghauharali K, van Breemen MJ, Ferraz MJ, Groener JE, Maas M, Wijburg FA, Speijer D, Tylki-Szymanska A, Mistry PK, Boot RG, Aerts JM. Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood. 2011 Oct 20; 118(16):e11827.
  • 19
    ESHRE Capri Workshop Group. Bone fractures after menopause. Hum Reprod Update. 2010;16:76173.
  • 20
    Rosenthal DI, Doppelt SH, Mankin HJ, Dambrosia JM, Xavier RJ, McKusick KA, Rosen BR, Baker J, Niklason LT, Hill SC, Miller SPF, Brady RO, Barton NW. Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics. 1995 Oct; 96(4 Pt 1):62937.
  • 21
    El-Beshlawy A, Ragab L, Youssry I, Yakout K, El-Kiki H, Eid K, Mansour IM, Abd El-Hamid S, Yang M, Mistry PK. Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients. J Inherit Metab Dis. 2006 Feb; 29(1):928.
  • 22
    Bembi B, Ciana G, Mengel E, Terk MR, Martini C, Wenstrup RJ. Bone complications in children with Gaucher disease. Br J Radiol. 2002;75(Suppl 1):A3744.
  • 23
    Sims KB, Pastores GM, Weinreb NJ, Barranger J, Rosenbloom BE, Packman S, Kaplan P, Mankin H, Xavier R, Angell J, Fitzpatrick MA, Rosenthal D. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet. 2008 May; 73(5):43040.
  • 24
    Charrow J, Dulisse B, Grabowski GA, Weinreb NJ. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet. 2007 Mar; 71(3):20511.
  • 25
    Cole JA, Taylor JS, Hangartner TN, Weinreb NJ, Mistry PK, Khan A. Reducing selection bias in case-control studies from rare disease registries. Orphanet J Rare Dis. 2011;6:61.
  • 26
    Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Banerjee TK, McKee MA, Parker C, Schiffmann R, Hill SC, Brady RO. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med. 1995 Jan 1; 122(1):339.
  • 27
    Hollak CE, Maas M, Aerts JM. Clinically relevant therapeutic endpoints in type I Gaucher disease. J Inherit Metab Dis. 2001;24(Suppl 2):97105; discussion 87–8.
  • 28
    Aerts JM, Kallemeijn WW, Wegdam W, Joao Ferraz M, van Breemen MJ, Dekker N, Kramer G, Poorthuis BJ, Groener JE, Cox-Brinkman J, Rombach SM, Hollak CE, Linthorst GE, Witte MD, Gold H, van der Marel GA, Overkleeft HS, Boot RG. Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J Inherit Metab Dis. 2011 Jun; 34(3):60519.
  • 29
    Leibson CL, Tosteson AN, Gabriel SE, Ransom JE, Melton LJ. Mortality, disability, and nursing home use for persons with and without hip fracture: a population-based study. J Am Geriatr Soc. 2002 Oct; 50(10):164450.
  • 30
    Pastores GM, Wallenstein S, Desnick RJ, Luckey MM. Bone density in Type 1 Gaucher disease. J Bone Miner Res. 1996 Nov; 11(11):18017.
  • 31
    Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol. 2009 Apr; 84(4):20814.
  • 32
    Kanis JA, Gluer CC. An update on the diagnosis and assessment of osteoporosis with densitometry. Committee of Scientific Advisors, International Osteoporosis Foundation. Osteoporos Int. [Comment]. 2000;11(3):192202.
  • 33
    Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymanska A. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004 Oct; 41(4 Suppl 5):414.
  • 34
    Wenstrup RJ, Bailey L, Grabowski GA, Moskovitz J, Oestreich AE, Wu W, Sun S. Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood. 2004 Sep 1; 104(5):12537.
  • 35
    Weinreb N, Costanitini L. Increased risk of osteopenic fractures in elderly patients. (ASH Annual Meeting Abstracts). Blood. 2007;110:2403.
  • 36
    Pastores GM, Elstein D, Hrebicek M, Zimran A. Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies. Clin Ther. 2007 Aug; 29(8):164554.
  • 37
    Lukina E, Watman N, Arreguin EA, Banikazemi M, Dragosky M, Iastrebner M, Rosenbaum H, Phillips M, Pastores GM, Rosenthal DI, Kaper M, Singh T, Puga AC, Bonate PL, Peterschmitt MJ. A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1. Blood. 2010 Aug 12; 116(6):8939.
  • 38
    Lukina E, Watman N, Arreguin EA, Dragosky M, Iastrebner M, Rosenbaum H, Phillips M, Pastores GM, Kamath RS, Rosenthal DI, Kaper M, Singh T, Puga AC, Peterschmitt MJ. Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study. Blood. 2010 Nov 18; 116(20):40958.
  • 39
    Mankin HJ. Nontraumatic necrosis of bone (osteonecrosis). N Engl J Med. 1992 May 28; 326(22):14739.
  • 40
    Hernigou P, Beaujean F, Lambotte JC. Decrease in the mesenchymal stem-cell pool in the proximal femur in corticosteroid-induced osteonecrosis. J Bone Joint Surg Br. 1999 Mar; 81(2):34955.
  • 41
    Weinstein RS, Nicholas RW, Manolagas SC. Apoptosis of osteocytes in glucocorticoid-induced osteonecrosis of the hip. J Clin Endocrinol Metab. 2000 Aug; 85(8):290712.
  • 42
    Zaidi M, Sun L, Robinson LJ, Tourkova IL, Liu L, Wang Y, Zhu LL, Liu X, Li J, Peng Y, Yang G, Shi X, Levine A, Iqbal J, Yaroslavskiy BB, Isales C, Blair HC. ACTH protects against glucocorticoid-induced osteonecrosis of bone. Proc Natl Acad Sci U S A. 2010 May 11; 107(19):87827.
  • 43
    Youm YS, Lee SY, Lee SH. Apoptosis in the osteonecrosis of the femoral head. Clin Orthop Surg. 2010;2(4):2505.
  • 44
    Campeau PM, Rafei M, Boivin MN, Sun Y, Grabowski GA, Galipeau J. Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome. Blood. 2009 Oct 8; 114(15):318190.
  • 45
    Cox TM. Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases. Curr Opin Investig Drugs. 2010 Oct; 11(10):116981.
  • 46
    Lecka-Czernik B. Marrow fat metabolism is linked to the systemic energy metabolism. Bone. 2012 Feb; 50(2):5349.
  • 47
    Aerts JM, Boot RG, van Eijk M, Groener J, Bijl N, Lombardo E, Bietrix FM, Dekker N, Groen AK, Ottenhoff R, van Roomen C, Aten J, Serlie M, Langeveld M, Wennekes T, Overkleeft HS. Glycosphingolipids and insulin resistance [Review]. Adv Exp Med Biol. 2011;721:99119.
  • 48
    Stein P, Yang R, Liu J, Pastores GM, Mistry PK. Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity. J Inherit Metab Dis. 2011 Apr; 34(2):42937.
  • 49
    Langeveld M, Scheij S, Dubbelhuis P, Hollak CE, Sauerwein HP, Simons P, Aerts JM. Very low serum adiponectin levels in patients with type 1 Gaucher disease without overt hyperglycemia. Metabolism. 2007 Mar; 56(3):3149.
  • 50
    Walkley CR. Erythropoiesis, anemia and the bone marrow microenvironment. Int J Hematol. 2011 Jan; 93(1):103.