GENERAL
Beutler E and Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York .2001.

Charrow J, Esplin JA, Gribble TJ, Kaplan P, Kolodny EH, Pastores GM, Scott CR, Wappner RS, Weinreb NJ, Wisch JS. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med.1998; 158:1754-60.

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; 122:33-9.

Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Haematol. 2005; 129(2):178-88.

Rosenbloom BE, Weinreb NJ, Zimran A, Kacena KA, Charrow J, Ward E  Gaucher disease and cancer incidence: a study from the Gaucher Registry.
Blood. 2005;105(12):4569-72.

HEMATOLOGY
Zimran A, Altarescu G, Rudensky B, Abrahamov A, Elstein D.  Survey of hematological aspects of Gaucher disease. Hematology. 2005; 10(2):151-6.

BONE
Ciana G, Addobbati R, Tamaro G, Leopaldi A, Nevyjel M, Ronfani L, Vidoni L, Pittis MG, Bembi B. Gaucher disease and bone: laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy. J Inherit Metab Dis. 2005; 28(5):723-32.

Drugan C, Jebeleanu G, Grigorescu-Sido P, Caillaud C, Craciun AM. Biochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with type 1 Gaucher disease. Blood Cells Mol Dis.2002; 28:13-20.

Hermann G, Pastores GM, Abdelwahab IF, Lorberboym AM.  Gaucher disease: assessment of skeletal involvement and therapeutic responses to enzyme replacement. Skeletal Radiol.1997; 26:687-96.

Maas M, Hollak CE, Akkerman EM, Aerts JM, Stoker J, Den Heeten GJ. Quantification of skeletal involvement in adults with type I Gaucher's disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter. AJR Am J Roentgenol.2002; 179:961-5.

Mariani G, Filocamo M, Giona F, Villa G, Amendola A, Erba P, Buffoni F, Copello F, Pierini A, Minichilli F, Gatti R, Brady RO. Severity of bone marrow involvement in patients with Gaucher's disease evaluated by scintigraphy with 99mTc-sestamibi. J Nucl Med.2003; 44:1253-62.

Pastores GM and Meere PA. Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I).  Curr Opin Rheumatol 2005; 17:70-8.

Poll LW, Maas M, Terk MR, Roca-Espiau M, Bembi B, Ciana G, Weinreb NJ. Response of Gaucher bone disease to enzyme replacement therapy. Br J Radiol.2002; 75 Suppl 1:A25-36.

PULMONARY
Amir G and Ron N.  Pulmonary pathology in Gaucher's disease. Hum Pathol.1999; 30:666-70.

Fernandes CJ, Jardim C, Carvalho LA, Farias AQ, Filho MT, Souza R. Clinical response to sildenafil in pulmonary hypertension associated with Gaucher disease. J Inherit Metab Dis. 2005;28(4):603-5.

Miller A, Brown LK, Pastores GM, Desnick RJ. Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease. Clin Genet.2003; 63:368-76.

Mistry PK, Sirrs S, Chan A, Pritzker MR, Duffy TP, Grace ME, Meeker DP, Goldman ME.  Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol Genet Metab.2002; 77:91-8.

NEURONOPATHIC
Campbell PE, Harris CM, Harris CM, Sirimanna T, Vellodi A.  A model of neuronopathic Gaucher disease. J Inherit Metab Dis.2003; 26:629-39.
Elstein D, Guedalia J, Doniger GM, Simon ES, Antebi V, Arnon Y, Zimran A. Computerized cognitive testing in patients with type I Gaucher disease: effects of enzyme replacement and substrate reduction.  Genet Med. 2005; 7(2):124-30.

Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E. Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr.2003; 143:273-6

Lonser RR, Walbridge S, Murray GJ, Aizenberg MR, Vortmeyer AO, Aerts JM, Brady RO, Oldfield EH.  Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease. Ann Neurol. 2005; 57(4):542-8.

Pastores GM, Barnett NL, Bathan P, Kolodny EH. A neurological symptom survey of patients with type I Gaucher disease. J Inherit Metab Dis 2003; 26:641-5.

Vellodi A, Bembi B, de Villemeur TB, Collin-Histed T, Erikson A, Mengel E, Rolfs A, Tylki-Szymanska A. Neuronopathic Gaucher Disease Task Force of the European Working Group on Gaucher Disease.  Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis.2001; 24:319-27.

Wong K, Sidransky E, Verma A, Mixon T, Sandberg GD, Wakefield LK, Morrison A, Lwin A, Colegial C, Allman JM, Schiffmann R. Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab.2004; 82:192-207.

PREGNANCY
Elstein Y, Eisenberg V, Granovsky-Grisaru S, Rabinowitz R, Samueloff A, Zimran A, Elstein D. Pregnancies in Gaucher disease: a 5-year study. Am J Obstet Gynecol. 2004; 190:435-41.

Fasouliotis SJ, Ezra Y, Schenker JG. Gaucher's disease and pregnancy. Am J Perinatol. 1998; 15:311-8.

QOL
Damiano AM, Pastores GM, Ware JE Jr. The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: results from a retrospective study. Qual Life Res 1998; 7:373-86

Giraldo P, Solano V, Perez-Calvo JI, Giralt M, Rubio-Felix D; Spanish Group on Gaucher disease. Quality of life related to type 1 Gaucher disease: Spanish experience. Qual Life Res. 2005; 14(2):453-62.

Masek BJ, Sims KB, Bove CM, Korson MS, Short P, Norman DK. Quality of life assessment in adults with type 1 Gaucher disease. Qual Life Res.1999; 8:263-8

PEDIATRICS
Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ.  Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr.2004; 144:112-20

McHugh K, Olsen E OE, Vellodi A. Gaucher disease in children: radiology of non-central nervous system manifestations. Clin Radiol 2004; 59:117-23

MOLECULAR/BIOCHEMICAL
Aerts JM, Hollak CE, van Breemen M, Maas M, Groener JE, Boot RG. Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases.
Acta Paediatr Suppl. 2005; 94(447):43-46.

Beutler E, Beutler L, West C.  Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease. J Lab Clin Med 2004; 144:65-8

Boot RG, Verhoek M, de Fost M, Hollak CE, Maas M, Bleijlevens B, van Breemen MJ, van Meurs M, Boven LA, Laman JD, Moran MT, Cox TM, Aerts JM.  Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood. 2004; 103:33-9

Elstein D, Scott CR, Zeigler M, Abrahamov A, Zimran A. Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype. Genet Test 2005; 9(1):26-9.

Elstein D, Scott CR, Zeigler M, Abrahamov A, Zimran A. Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.  Genet Test 2005; 9(1):26-9.

Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E.  Analysis and classification of 304 mutant alleles in patients with Type 1 and Type 3 Gaucher disease. Am J Hum Genet.2000; 66:1777-86

Moller HJ, de Fost M, Aerts H, Hollak C, Moestrup SK. Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease. Eur J Haematol 2004; 72:135-9

Montfort M, Chabas A, Vilageliu L, Grinberg D. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: pathogenic changes and "modifier" polymorphisms. Hum Mutat 2004; 23:567-75

Orvisky E, Park JK, LaMarca ME, Ginns EI, Martin BM, Tayebi N, Sidransky E. Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. Mol Genet Metab 2002; 76:262-70

Ron I, Horowitz M. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum Mol Genet. 2005; 14(16):2387-98.

Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat 2000; 15:181-8

Schmitz M, Alfalah M, Aerts JM, Naim HY, Zimmer KP. Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease.  Int J Biochem Cell Biol 2005; 37(11):2310-20.

Vellodi A, Foo Y, Cole TJ. Evaluation of three biochemical markers in the monitoring of Gaucher disease. J Inherit Metab Dis 2005; 28(4):585-92.

THERAPY
Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ; International Collaborative Gaucher Group U.S. Regional Coordinators. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med. 2005;7(2):105-10.

Cabrera-Salazar MA, Novelli E, Barranger JA.  Gene therapy for the lysosomal storage disorders. Curr Opin Mol Ther 2002; 4:349-58 .

Cox TM, Aerts JM, Andria G, Beck M, Belmatoug N, Bembi B, Chertkoff R, Vom Dahl S, Elstein D, Erikson A, Giralt M, Heitner R, Hollak C, Hrebicek M, Lewis S, Mehta A, Pastores GM, Rolfs A, Miranda MC, Zimran A. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis.2003; 26:513-26.

Dwek RA, Butters TD, Platt FM, Zitzmann N. Targeting glycosylation as a therapeutic approach. Nat Rev Drug Discov.2002; 1:65-75.

Elstein D, Hollak C, Aerts JM, van Weely S, Maas M, Cox TM, Lachmann RH, Hrebicek M, Platt FM, Butters TD, Dwek RA, Zimran A. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis.2004; 27:757-66.

Grabowski GA. Gaucher disease: lessons learned from a decade of therapy. J Pediatr. 2004; 144 Suppl:S15-9.
Ioannou YA, Enriquez A, Benjamin C. Gene therapy for lysosomal storage disorders. Expert Opin Biol Ther 2003; 3:789-801.

Migita M, Hamada H, Fujimura J, Watanabe A, Shimada T, Fukunaga Y. Glucocerebrosidase level in the cerebrospinal fluid during enzyme replacement therapy--unsuccessful treatment of the neurological abnormality in type 2 Gaucher disease. Eur J Pediatr.2003; 162:524-5.

Pastores GM, Sibille AR, Grabowski GA. Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. Blood.1993; 82:408-16.

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; 41:4-14.

Pastores GM. Enzyme therapy for the lysosomal storage disorders: principles, patents, practice and prospects. Expert Opin Ther Patents 2003; 13:1157-1172.