{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T02:36:52Z","timestamp":1791254212332,"version":"4.1.0"},"reference-count":96,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2014,3,1]],"date-time":"2014-03-01T00:00:00Z","timestamp":1393632000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,3,1]],"date-time":"2014-03-01T00:00:00Z","timestamp":1393632000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jcehepatology.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Clinical and Experimental Hepatology"],"published-print":{"date-parts":[[2014,3]]},"DOI":"10.1016\/j.jceh.2014.02.005","type":"journal-article","created":{"date-parts":[[2014,4,21]],"date-time":"2014-04-21T02:15:27Z","timestamp":1398046527000},"page":"37-50","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":98,"title":["Gaucher Disease"],"prefix":"10.1016","volume":"4","author":[{"given":"Aabha","family":"Nagral","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jceh.2014.02.005_bib1","series-title":"Metabolic and Molecular Bases of Inherited Disease","first-page":"3635","article-title":"Gaucher disease","author":"Beutler","year":"2001"},{"key":"10.1016\/j.jceh.2014.02.005_bib2","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1007\/978-1-4419-6741-1_11","article-title":"Glucosylceramide in humans","volume":"688","author":"Messner","year":"2010","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.jceh.2014.02.005_bib3","first-page":"51","article-title":"Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility","volume":"12","author":"Sheth","year":"2013","journal-title":"JIMD Rep"},{"key":"10.1016\/j.jceh.2014.02.005_bib4","first-page":"855","article-title":"High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews","volume":"49","author":"Zimran","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jceh.2014.02.005_bib5","doi-asserted-by":"crossref","first-page":"2835","DOI":"10.1001\/archinte.160.18.2835","article-title":"The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease","volume":"160","author":"Charrow","year":"2000","journal-title":"Arch Intern Med"},{"key":"10.1016\/j.jceh.2014.02.005_bib6","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1007\/s10545-009-9009-6","article-title":"Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry","volume":"33","author":"Tylki-Szyma\u0144ska","year":"2010","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.jceh.2014.02.005_bib7","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/BF00441578","article-title":"Gaucher disease\u2013Norrbottnian type. I. General clinical description","volume":"133","author":"Dreborg","year":"1980","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jceh.2014.02.005_bib8","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1007\/s13312-011-0128-4","article-title":"Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India","volume":"48","author":"Nagral","year":"2011","journal-title":"Indian Pediatr"},{"key":"10.1016\/j.jceh.2014.02.005_bib9","series-title":"Gaucher Disease","first-page":"67","article-title":"Saposin C and other sphingolipid activator proteins","author":"Locatelli Hoops","year":"2006"},{"key":"10.1016\/j.jceh.2014.02.005_bib10","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/S1096-7192(02)00117-8","article-title":"Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype","volume":"76","author":"Orvisky","year":"2002","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jceh.2014.02.005_bib11","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s004390050468","article-title":"Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease","volume":"100","author":"Cormand","year":"1997","journal-title":"Hum Genet"},{"key":"10.1016\/j.jceh.2014.02.005_bib12","first-page":"85","article-title":"Gaucher disease: gene frequencies in the Ashkenazi Jewish population","volume":"52","author":"Beutler","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jceh.2014.02.005_bib13","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1006\/bcmd.2001.0461","article-title":"Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations","volume":"27","author":"Alfonso","year":"2001","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.jceh.2014.02.005_bib14","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.bcmd.2010.07.010","article-title":"Clinical and genetic characteristics of Korean patients with Gaucher disease","volume":"46","author":"Jeong","year":"2011","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.jceh.2014.02.005_bib15","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1086\/302925","article-title":"Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease","volume":"66","author":"Koprivica","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jceh.2014.02.005_bib16","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1006\/bmmb.1993.1011","article-title":"Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal","volume":"49","author":"Amaral","year":"1993","journal-title":"Biochem Med Metab Biol"},{"key":"10.1016\/j.jceh.2014.02.005_bib17","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1093\/qjmed\/hch036","article-title":"Twin pairs showing discordance of phenotype in adult Gaucher's disease","volume":"97","author":"Lachmann","year":"2004","journal-title":"QJM"},{"issue":"2","key":"10.1016\/j.jceh.2014.02.005_bib18","doi-asserted-by":"crossref","first-page":"F163","DOI":"10.1136\/fn.82.2.F163","article-title":"Type 2 Gaucher disease: the collodion baby phenotype revisited","volume":"82","author":"Stone","year":"2000","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"10.1016\/j.jceh.2014.02.005_bib19","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1111\/j.1365-2141.2010.08214.x","article-title":"Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in\u00a0vitro model of Gaucher disease","volume":"150","author":"Berger","year":"2010","journal-title":"Br J Haematol"},{"key":"10.1016\/j.jceh.2014.02.005_bib20","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1111\/j.1365-2141.2011.08613.x","article-title":"Platelet adhesion defect in type I Gaucher Disease is associated with a risk of mucosal bleeding","volume":"153","author":"Spectre","year":"2011","journal-title":"Br J Haematol"},{"key":"10.1016\/j.jceh.2014.02.005_bib21","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.jpeds.2006.10.062","article-title":"Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy","volume":"150","author":"Burrow","year":"2007","journal-title":"J\u00a0Pediatr"},{"issue":"suppl 1","key":"10.1016\/j.jceh.2014.02.005_bib22","doi-asserted-by":"crossref","first-page":"A37","DOI":"10.1259\/bjr.75.suppl_1.750037","article-title":"Bone complications in children with Gaucher disease","volume":"75","author":"Bembi","year":"2002","journal-title":"Br J Radiol"},{"key":"10.1016\/j.jceh.2014.02.005_bib23","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1097\/MD.0b013e3182057be4","article-title":"Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy","volume":"90","author":"Deegan","year":"2011","journal-title":"Med Baltim"},{"key":"10.1016\/j.jceh.2014.02.005_bib24","first-page":"201","article-title":"Risk factors for osteonecrosis in patients with type 1 Gaucher's disease","volume":"362","author":"Rodrigue","year":"1997","journal-title":"Clin Orthop Relat Res"},{"key":"10.1016\/j.jceh.2014.02.005_bib25","first-page":"838","article-title":"Bone crises in Gaucher disease","volume":"5","author":"Cohen","year":"2003","journal-title":"Isr Med Assoc J"},{"key":"10.1016\/j.jceh.2014.02.005_bib26","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1093\/qjmed\/93.4.237","article-title":"Massive hepatic fibrosis in Gaucher's disease: clinico-pathological and radiological features","volume":"93","author":"Lachmann","year":"2000","journal-title":"QJM"},{"issue":"3","key":"10.1016\/j.jceh.2014.02.005_bib27","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1097\/00003072-199903000-00005","article-title":"Hepatopulmonary syndrome in Gaucher disease with right-to-left shunt: evaluation and measurement using Tc-99m MAA","volume":"24","author":"Kim","year":"1999","journal-title":"Clin Nucl Med"},{"key":"10.1016\/j.jceh.2014.02.005_bib28","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1034\/j.1399-0004.2003.00060.x","article-title":"Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease","volume":"63","author":"Miller","year":"2003","journal-title":"Clin Genet"},{"key":"10.1016\/j.jceh.2014.02.005_bib29","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1056\/NEJM199701303360516","article-title":"Gaucher cells in pulmonary-capillary blood in association with pulmonary hypertension","volume":"336","author":"Ross","year":"1997","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.jceh.2014.02.005_bib30","doi-asserted-by":"crossref","first-page":"2909","DOI":"10.1093\/brain\/awq198","article-title":"Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study","volume":"133","author":"Biegstraaten","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.jceh.2014.02.005_bib31","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.braindev.2005.04.005","article-title":"Type 2 Gaucher disease: 15 new cases and review of the literature","volume":"28","author":"Mignot","year":"2006","journal-title":"Brain Dev"},{"key":"10.1016\/j.jceh.2014.02.005_bib32","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1055\/s-2007-973507","article-title":"Ocular motor abnormalities in Gaucher disease","volume":"30","author":"Harris","year":"1999","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.jceh.2014.02.005_bib33","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1007\/BF00442672","article-title":"Gaucher disease \u2013 Norrbottnian type. Neurodevelopmental, neurological, and neurophysiological aspects","volume":"140","author":"Blom","year":"1983","journal-title":"Eur J Pediatr"},{"issue":"7","key":"10.1016\/j.jceh.2014.02.005_bib34","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1053\/seiz.2000.0426","article-title":"Longterm follow-up of electroencephalographic and clinical findings of a case with Gaucher's disease type 3a","volume":"9","author":"T\u00fcz\u00fcn","year":"2000","journal-title":"Seizure"},{"key":"10.1016\/j.jceh.2014.02.005_bib35","doi-asserted-by":"crossref","first-page":"1993","DOI":"10.1212\/WNL.43.10.1993","article-title":"Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease","volume":"43","author":"Patterson","year":"1993","journal-title":"Neurology"},{"key":"10.1016\/j.jceh.2014.02.005_bib36","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1016\/S0140-6736(95)91688-1","article-title":"Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype","volume":"346","author":"Abrahamov","year":"1995","journal-title":"Lancet"},{"key":"10.1016\/j.jceh.2014.02.005_bib37","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1136\/jmg.35.9.775","article-title":"Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis","volume":"35","author":"Chab\u00e1s","year":"1998","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.jceh.2014.02.005_bib38","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1001\/archneur.65.10.1353","article-title":"The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations","volume":"65","author":"Goker-Alpan","year":"2008","journal-title":"Arch Neurol"},{"key":"10.1016\/j.jceh.2014.02.005_bib39","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.ymgme.2004.11.007","article-title":"Gaucher disease and Parkinsonism","volume":"84","author":"Sidransky","year":"2005","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jceh.2014.02.005_bib40","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/0016-5085(81)90202-X","article-title":"Liver abnormalities in patients with Gaucher's disease","volume":"80","author":"James","year":"1981","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jceh.2014.02.005_bib41","doi-asserted-by":"crossref","first-page":"4569","DOI":"10.1182\/blood-2004-12-4672","article-title":"Gaucher disease and cancer incidence: a study from the Gaucher Registry","volume":"105","author":"Rosenbloom","year":"2005","journal-title":"Blood"},{"key":"10.1016\/j.jceh.2014.02.005_bib42","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1111\/bjh.12335","article-title":"Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of literature","volume":"161","author":"Arends","year":"2013","journal-title":"Br J Haematol"},{"key":"10.1016\/j.jceh.2014.02.005_bib43","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1023\/A:1005655031239","article-title":"The natural course of Gaucher disease in The Netherlands: implications for monitoring of disease manifestations","volume":"23","author":"Maaswinkel-Mooij","year":"2000","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.jceh.2014.02.005_bib44","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.bcmd.2009.08.002","article-title":"The clinical course of untreated Gaucher disease in 22 patients over 10 years: hematological and skeletal manifestations","volume":"43","author":"Piran","year":"2009","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.jceh.2014.02.005_bib45","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.bcmd.2009.12.006","article-title":"Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study","volume":"44","author":"Boomsma","year":"2010","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.jceh.2014.02.005_bib46","first-page":"984","article-title":"Gaucher's disease: a review for the internist and hepatologist","volume":"47","author":"Niederau","year":"2000","journal-title":"Hepatogastroenterology"},{"key":"10.1016\/j.jceh.2014.02.005_bib47","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1080\/10245330701393675","article-title":"Pseudo-Gaucher cells in Hb E disease and thalassemia intermedia","volume":"12","author":"Sharma","year":"2007","journal-title":"Hematology"},{"key":"10.1016\/j.jceh.2014.02.005_bib48","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1080\/10428190600565453","article-title":"Gaucher disease and multiple myeloma","volume":"47","author":"Costello","year":"2006","journal-title":"Leuk Lymphoma"},{"key":"10.1016\/j.jceh.2014.02.005_bib49","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1136\/jcp.52.12.917","article-title":"Pseudo-Gaucher cells in myelodysplasia","volume":"52","author":"Stewart","year":"1999","journal-title":"J\u00a0Clin Pathol"},{"key":"10.1016\/j.jceh.2014.02.005_bib50","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1097\/00007611-199701000-00016","article-title":"Pseudo-Gaucher's cells in association with common acute lymphoblastic leukemia","volume":"90","author":"Knox-Macaulay","year":"1997","journal-title":"South Med J"},{"key":"10.1016\/j.jceh.2014.02.005_bib51","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1002\/ajh.22269","article-title":"Pseudo-Gaucher cells in disseminated mycobacterial infection","volume":"88","author":"Busarla","year":"2013","journal-title":"Am J Hematol"},{"key":"10.1016\/j.jceh.2014.02.005_bib52","first-page":"37","article-title":"Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts","volume":"24","author":"Ho","year":"1972","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jceh.2014.02.005_bib53","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1080\/08880010600623232","article-title":"Coagulation abnormalities in type 1 Gaucher disease in children","volume":"23","author":"Deghady","year":"2006","journal-title":"Pediatr Hematol Oncol"},{"key":"10.1016\/j.jceh.2014.02.005_bib54","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s003300101031","article-title":"Spectrum of abdominal sonographic findings in 103 pediatric patients with Gaucher disease","volume":"12","author":"Patlas","year":"2002","journal-title":"Eur Radiol"},{"key":"10.1016\/j.jceh.2014.02.005_bib55","series-title":"Genetic Metabolic Disorders: Management, Costs and Socio-medical Aspects","first-page":"19","article-title":"Gaucher disease: pathophysiology, clinical features and management","author":"Niederau","year":"2007"},{"key":"10.1016\/j.jceh.2014.02.005_bib56","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1148\/radiol.2292020296","article-title":"Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging\u2013initial experience","volume":"229","author":"Maas","year":"2003","journal-title":"Radiology"},{"key":"10.1016\/j.jceh.2014.02.005_bib57","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1055\/s-0029-1245410","article-title":"MRI bone marrow findings in 63 patients with type I Gaucher disease","volume":"182","author":"Poll","year":"2010","journal-title":"Rofo"},{"key":"10.1016\/j.jceh.2014.02.005_bib58","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1016\/j.bone.2004.06.009","article-title":"The relationship between lean body mass and bone mineral content in paediatric health and disease","volume":"35","author":"Crabtree","year":"2004","journal-title":"Bone"},{"key":"10.1016\/j.jceh.2014.02.005_bib59","first-page":"977","article-title":"Chitotriosidase genotype and plasma activity in patients type 1 Gaucher's disease and their relatives (carriers and non carriers)","volume":"86","author":"Giraldo","year":"2001","journal-title":"Hematologica"},{"key":"10.1016\/j.jceh.2014.02.005_bib60","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.bcmd.2009.09.005","article-title":"CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency","volume":"44","author":"Chang","year":"2010","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.jceh.2014.02.005_bib61","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1007\/s00431-003-1363-z","article-title":"Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring","volume":"163","author":"Baldellou","year":"2004","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jceh.2014.02.005_bib62","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1007\/BF01799179","article-title":"Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain","volume":"19","author":"Chab\u00e1s","year":"1996","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.jceh.2014.02.005_bib63","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1212\/WNL.54.1.261","article-title":"Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC)","volume":"54","author":"Bohlega","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.jceh.2014.02.005_bib64","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1111\/j.1399-0004.1981.tb00661.x","article-title":"Prenatal diagnosis of Gaucher disease. Assay of the beta-glucosidase activity in amniotic fluid cells cultivated in two laboratories with different cultivation conditions","volume":"19","author":"Svennerholm","year":"1981","journal-title":"Clin Genet"},{"key":"10.1016\/j.jceh.2014.02.005_bib65","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.bcmd.2010.04.008","article-title":"Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model","volume":"46","author":"Altarescu","year":"2011","journal-title":"Blood Cells Mol Dis"},{"issue":"suppl 3","key":"10.1016\/j.jceh.2014.02.005_bib66","doi-asserted-by":"crossref","first-page":"S429","DOI":"10.1007\/s10545-010-9214-3","article-title":"Misdiagnosis of Niemann-Pick disease type C as Gaucher disease","volume":"33","author":"Lo","year":"2010","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.jceh.2014.02.005_bib67","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/0014-5793(91)80760-Z","article-title":"Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease","volume":"284","author":"Schnabel","year":"1991","journal-title":"FEBS Lett"},{"key":"10.1016\/j.jceh.2014.02.005_bib68","doi-asserted-by":"crossref","first-page":"1464","DOI":"10.1056\/NEJM199105233242104","article-title":"Replacement therapy for inherited enzyme deficiency\u2013macrophage-targeted glucocerebrosidase for Gaucher's disease","volume":"324","author":"Barton","year":"1991","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.jceh.2014.02.005_bib69","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1007\/s00431-012-1771-z","article-title":"Revised recommendations for the management of Gaucher disease in children","volume":"172","author":"Kaplan","year":"2013","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jceh.2014.02.005_bib70","doi-asserted-by":"crossref","first-page":"1474","DOI":"10.1016\/S0140-6736(95)91037-9","article-title":"Individualised low-dose alglucerase therapy for type 1 Gaucher's disease","volume":"345","author":"Hollak","year":"1995","journal-title":"Lancet"},{"key":"10.1016\/j.jceh.2014.02.005_bib71","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/S0022-3476(96)70203-2","article-title":"Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase","volume":"129","author":"Kaplan","year":"1996","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.jceh.2014.02.005_bib72","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1111\/j.1365-2141.2009.07872.x","article-title":"Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis","volume":"147","author":"Mistry","year":"2009","journal-title":"Br J Haematol"},{"issue":"5","key":"10.1016\/j.jceh.2014.02.005_bib73","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1182\/blood.V82.5.1402.1402","article-title":"Antibody response in patients with Gaucher disease after repeated infusion with macrophage-targeted glucocerebrosidase","volume":"82","author":"Richards","year":"1993","journal-title":"Blood"},{"issue":"4\u00a0suppl 5","key":"10.1016\/j.jceh.2014.02.005_bib74","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1053\/j.seminhematol.2004.07.009","article-title":"Therapeutic goals in the\u00a0treatment of Gaucher disease","volume":"41","author":"Pastores","year":"2004","journal-title":"Semin Hematol"},{"key":"10.1016\/j.jceh.2014.02.005_bib75","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1007\/s10545-012-9528-4","article-title":"Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment","volume":"36","author":"Weinreb","year":"2013","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.jceh.2014.02.005_bib76","doi-asserted-by":"crossref","first-page":"4651","DOI":"10.1182\/blood-2010-02-268649","article-title":"Phase 1\/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience","volume":"115","author":"Zimran","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.jceh.2014.02.005_bib77","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1358\/dot.2011.47.7.1608922","article-title":"Velaglucerase alfa: a new option for Gaucher disease treatment","volume":"47","author":"Zimran","year":"2011","journal-title":"Drugs Today (Barc)"},{"key":"10.1016\/j.jceh.2014.02.005_bib78","doi-asserted-by":"crossref","first-page":"5767","DOI":"10.1182\/blood-2011-07-366955","article-title":"Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease","volume":"118","author":"Zimran","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.jceh.2014.02.005_bib79","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1023\/A:1025902113005","article-title":"The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement","volume":"26","author":"Cox","year":"2003","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.jceh.2014.02.005_bib80","doi-asserted-by":"crossref","first-page":"2296","DOI":"10.1182\/blood-2007-02-075960","article-title":"Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement","volume":"110","author":"Elstein","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.jceh.2014.02.005_bib81","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1007\/s10545-011-9368-7","article-title":"Gastrointestinal disturbances and their management in miglustat-treated patients","volume":"34","author":"Belmatoug","year":"2011","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.jceh.2014.02.005_bib82","first-page":"1169","article-title":"Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases","volume":"11","author":"Cox","year":"2010","journal-title":"Curr Opin Investig Drugs"},{"key":"10.1016\/j.jceh.2014.02.005_bib83","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1097\/00007890-199503000-00011","article-title":"Ten years\u2019 experience of bone marrow transplantation for Gaucher disease","volume":"59","author":"Ringden","year":"1995","journal-title":"Transplantation"},{"key":"10.1016\/j.jceh.2014.02.005_bib84","doi-asserted-by":"crossref","first-page":"1934","DOI":"10.1111\/j.1600-6143.2010.03168.x","article-title":"Long-term outcomes of liver transplantation in type 1 Gaucher disease","volume":"10","author":"Ayto","year":"2010","journal-title":"Am J Transplant"},{"key":"10.1016\/j.jceh.2014.02.005_bib85","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1136\/adc.75.3.218","article-title":"Effective treatment of painful bone crises in type I Gaucher's disease with high dose prednisolone","volume":"75","author":"Cohen","year":"1996","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.jceh.2014.02.005_bib86","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1182\/blood-2003-11-3854","article-title":"Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy","volume":"104","author":"Wenstrup","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.jceh.2014.02.005_bib87","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.2106\/00004623-198668090-00011","article-title":"Osteomyelitis in Gaucher disease","volume":"68","author":"Bell","year":"1986","journal-title":"J\u00a0Bone Jt Surg Am"},{"key":"10.1016\/j.jceh.2014.02.005_bib88","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1002\/jbmr.1680","article-title":"Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry","volume":"27","author":"Khan","year":"2012","journal-title":"J\u00a0Bone Miner Res"},{"key":"10.1016\/j.jceh.2014.02.005_bib89","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1007\/s10545-011-9313-9","article-title":"Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy","volume":"34","author":"Lo","year":"2011","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.jceh.2014.02.005_bib90","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1002\/ajh.21721","article-title":"Hyperferritinemia and iron overload in type 1 Gaucher disease","volume":"85","author":"Stein","year":"2010","journal-title":"Am J Hematol"},{"key":"10.1016\/j.jceh.2014.02.005_bib91","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/s10545-010-9070-1","article-title":"High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease","volume":"33","author":"Taddei","year":"2010","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.jceh.2014.02.005_bib92","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/j.braindev.2012.12.002","article-title":"Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease","volume":"35","author":"Suzuki","year":"2013","journal-title":"Brain Dev"},{"key":"10.1016\/j.jceh.2014.02.005_bib93","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.bcmd.2012.10.007","article-title":"Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase","volume":"50","author":"Bendikov-Bar","year":"2013","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.jceh.2014.02.005_bib94","doi-asserted-by":"crossref","first-page":"2334","DOI":"10.1073\/pnas.87.6.2334","article-title":"Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease","volume":"87","author":"Fink","year":"1990","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jceh.2014.02.005_bib95","doi-asserted-by":"crossref","first-page":"13819","DOI":"10.1073\/pnas.0606016103","article-title":"Effective cell and gene therapy in a murine model of Gaucher disease","volume":"103","author":"Enquist","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jceh.2014.02.005_bib96","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1007\/s13312-012-0192-4","article-title":"Spectrum of lysosomal storage disorders at a medical genetics center in northern India","volume":"49","author":"Verma","year":"2012","journal-title":"Indian Pediatr"}],"container-title":["Journal of Clinical and Experimental Hepatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0973688314000115?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0973688314000115?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T06:02:10Z","timestamp":1760853730000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0973688314000115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3]]},"references-count":96,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["S0973688314000115"],"URL":"https:\/\/doi.org\/10.1016\/j.jceh.2014.02.005","relation":{},"ISSN":["0973-6883"],"issn-type":[{"value":"0973-6883","type":"print"}],"subject":[],"published":{"date-parts":[[2014,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Gaucher Disease","name":"articletitle","label":"Article Title"},{"value":"Journal of Clinical and Experimental Hepatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jceh.2014.02.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 INASL. Published by Elsevier, a division of Reed Elsevier India, Pvt. Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}