{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T15:34:11Z","timestamp":1791646451253,"version":"4.3.4"},"reference-count":56,"publisher":"MDPI AG","issue":"24","license":[{"start":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T00:00:00Z","timestamp":1734393600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background: Gaucher disease (GD) is a rare autosomal recessive disorder caused by mutations in the GBA1 gene that lead to a deficiency in the glucocerebrosidase gene. This deficiency results in the accumulation of glucocerebrosides in macrophages, primarily affecting the liver, spleen, and bone marrow. Focusing on the Mexican population, this study aims to review GD\u2019s epidemiology, clinical manifestations, and treatment options to enhance early diagnosis and optimize treatment outcomes. Methods: This study is a comprehensive literature review analyzing epidemiological data, clinical presentations, and current therapeutic approaches for Gaucher disease, including enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Conclusions: Early diagnosis and individualized treatment, primarily through enzyme replacement therapy, significantly improve the prognosis of patients with Gaucher disease, particularly type 1. Continued research is required to enhance therapeutic approaches for the neuropathic types and better understand the disease\u2019s epidemiology in Mexico. These efforts will contribute to improved clinical outcomes and quality of life for patients.<\/jats:p>","DOI":"10.3390\/diagnostics14242840","type":"journal-article","created":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T08:17:00Z","timestamp":1734423420000},"page":"2840","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["An Overview of Gaucher Disease"],"prefix":"10.3390","volume":"14","author":[{"given":"Daniela Anah\u00ed","family":"M\u00e9ndez-Cobi\u00e1n","sequence":"first","affiliation":[{"name":"Unidad de Investigaci\u00f3n Epidemiol\u00f3gica y en Servicios de Salud, Centro M\u00e9dico Nacional de Occidente \u00d3rgano de Operaci\u00f3n Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, Mexico"},{"name":"Programa de M\u00e9dico Pasante en Servicio Social SSJ, Universidad de Guadalajara Centro Universitario del Sur., Ciudad Guzm\u00e1n 49000, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8751-2994","authenticated-orcid":false,"given":"Sandra","family":"Guzm\u00e1n-Silahua","sequence":"additional","affiliation":[{"name":"Unidad de Investigaci\u00f3n Epidemiol\u00f3gica y en Servicios de Salud, Centro M\u00e9dico Nacional de Occidente \u00d3rgano de Operaci\u00f3n Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, Mexico"},{"name":"School of Medicine International Program, Universidad Aut\u00f3noma de Guadalajara, Av. Patria 1201, Zapopan 45129, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Garc\u00eda-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Unidad de Investigaci\u00f3n Epidemiol\u00f3gica y en Servicios de Salud, Centro M\u00e9dico Nacional de Occidente \u00d3rgano de Operaci\u00f3n Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, Mexico"},{"name":"Immunology Research Laboratory, Decanato Medicina, Universidad Aut\u00f3noma de Guadalajara, Zapopan 45129, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-5614-8520","authenticated-orcid":false,"given":"Julian","family":"Conde-S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Unidad de Investigaci\u00f3n Epidemiol\u00f3gica y en Servicios de Salud, Centro M\u00e9dico Nacional de Occidente \u00d3rgano de Operaci\u00f3n Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, Mexico"},{"name":"Programa de M\u00e9dico Pasante en Servicio Social en Investigaci\u00f3n, Direcci\u00f3n General de Calidad y Educaci\u00f3n en Salud, Secretar\u00eda de Salud, Guadalajara 44329, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaocihuatl","family":"Casta\u00f1eda-Borrayo","sequence":"additional","affiliation":[{"name":"Unidad de Investigaci\u00f3n Epidemiol\u00f3gica y en Servicios de Salud, Centro M\u00e9dico Nacional de Occidente \u00d3rgano de Operaci\u00f3n Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, Mexico"},{"name":"Servicio de Salud en el Trabajo, Unidad de Medicina Familiar #53, OOAD Jalisco, Instituto Mexicano del Seguro Social, Zapopan 45170, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-4692-7434","authenticated-orcid":false,"given":"Kylee Louise","family":"Duey","sequence":"additional","affiliation":[{"name":"School of Medicine International Program, Universidad Aut\u00f3noma de Guadalajara, Av. Patria 1201, Zapopan 45129, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6508-9657","authenticated-orcid":false,"given":"Maria G.","family":"Zavala-Cerna","sequence":"additional","affiliation":[{"name":"Immunology Research Laboratory, Decanato Medicina, Universidad Aut\u00f3noma de Guadalajara, Zapopan 45129, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5138-8063","authenticated-orcid":false,"given":"Benjam\u00edn","family":"Rubio-Jurado","sequence":"additional","affiliation":[{"name":"Unidad de Investigaci\u00f3n Epidemiol\u00f3gica y en Servicios de Salud, Centro M\u00e9dico Nacional de Occidente \u00d3rgano de Operaci\u00f3n Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, Mexico"},{"name":"Departamento Cl\u00ednico de Hematolog\u00eda, Divisi\u00f3n de Onco-Hematolog\u00eda, UMAE Hospital de Especialidades, Centro M\u00e9dico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3061-521X","authenticated-orcid":false,"given":"Arnulfo Hern\u00e1n","family":"Nava-Zavala","sequence":"additional","affiliation":[{"name":"Unidad de Investigaci\u00f3n Epidemiol\u00f3gica y en Servicios de Salud, Centro M\u00e9dico Nacional de Occidente \u00d3rgano de Operaci\u00f3n Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, Mexico"},{"name":"School of Medicine International Program, Universidad Aut\u00f3noma de Guadalajara, Av. Patria 1201, Zapopan 45129, Jalisco, Mexico"},{"name":"Departamento de Inmunolog\u00eda y Reumatolog\u00eda del Hospital General de Occidente, Secretaria de Salud Jalisco, Zapopan 45170, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,12,17]]},"reference":[{"key":"ref_1","unstructured":"Ernest, G.P.C. (1882). De L\u2019\u00e9pith\u00e9lioma Primitif de la Rate, Hypertrophie Idiopathique de la Rate sans Leuc\u00e9mie, Facult\u00e9 de M\u00e9dicine de Paris."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1615\/CritRevOncog.2013006060","article-title":"Gaucher disease: A comprehensive review","volume":"18","author":"Rosenbloom","year":"2013","journal-title":"Crit. Rev. Oncog."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/s41572-018-0025-4","article-title":"Lysosomal storage diseases","volume":"4","author":"Platt","year":"2018","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_4","first-page":"114","article-title":"Enfermedad de Gaucher y su manejo cl\u00ednico en el paciente pedi\u00e1trico","volume":"3","year":"2010","journal-title":"J. Rev. Cl\u00edn. Med. Fam."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/j.arcmed.2021.05.001","article-title":"Gaucher Disease: Identification and Novel Variants in Mexican and Spanish Patients","volume":"52","author":"Arreguin","year":"2021","journal-title":"Arch. Med. Res."},{"key":"ref_6","first-page":"351","article-title":"Bone manifestations of Gaucher\u2019s disease in Mexican patients","volume":"24","author":"Blass","year":"2010","journal-title":"Acta Ortop. Mex."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1080\/10245332.2016.1240391","article-title":"Gaucher disease epidemiology and natural history: A comprehensive review of the literature","volume":"22","author":"Nalysnyk","year":"2017","journal-title":"Hematology"},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C., Levade, T., Astudillo, L., Serratrice, J., and Brassier, A. (2017). A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int. J. Mol. Sci., 18.","DOI":"10.3390\/ijms18020441"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1097\/MPH.0000000000002506","article-title":"Global Epidemiology of Gaucher Disease: An Updated Systematic Review and Meta-analysis","volume":"45","author":"Wang","year":"2023","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_10","unstructured":"de Salud, S. (2019). \u00bfQu\u00e9 son las Enfermedades Raras?, Gobierno de M\u00e9xico."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1007\/s00431-003-1362-0","article-title":"Pediatric non-neuronopathic Gaucher disease: Presentation, diagnosis and assessment. Consensus statements","volume":"163","author":"Grabowski","year":"2004","journal-title":"Eur. J. Pediatr."},{"key":"ref_12","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Amemiya, A. (1993). Gaucher Disease. GeneReviews((R)), University of Washington. update 2023."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"3897","DOI":"10.1007\/s00415-024-12439-5","article-title":"Neurological symptoms in adults with Gaucher disease: A systematic review","volume":"271","author":"Imbalzano","year":"2024","journal-title":"J. Neurol."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Furderer, M.L., Hertz, E., Lopez, G.J., and Sidransky, E. (2022). Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23105842"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.ymgme.2021.01.002","article-title":"Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes","volume":"132","author":"Daykin","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"ref_16","first-page":"125-42","article-title":"Enfermedad de Gaucher","volume":"52","year":"2015","journal-title":"An. Real. Acad. Med. Cir. Vall."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s42358-024-00362-2","article-title":"What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview","volume":"64","author":"Cordeiro","year":"2024","journal-title":"Adv. Rheumatol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"e87537","DOI":"10.7554\/eLife.87537","article-title":"Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center","volume":"12","author":"Basiri","year":"2023","journal-title":"Elife"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1186\/s13023-021-02151-2","article-title":"Gaucher disease: Clinical phenotypes and refining GBA mutational spectrum in Thai patients","volume":"16","author":"Phetthong","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_20","first-page":"88","article-title":"Sphingolipid metabolism and its relationship with cardiovascular, renal and metabolic diseases","volume":"93","author":"Franco","year":"2023","journal-title":"Arch. Cardiol. Mex."},{"key":"ref_21","first-page":"198","article-title":"Enfermedad de Gaucher. Reporte de un caso y revisi\u00f3n de la bibliograf\u00eda","volume":"27","author":"Trujillo","year":"2011","journal-title":"Med. Interna M\u00e9xico"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"136","DOI":"10.4274\/tjh.galenos.2022.2021.0683","article-title":"Gaucher Disease for Hematologists","volume":"39","author":"Ozdemir","year":"2022","journal-title":"Turk. J. Haematol."},{"key":"ref_23","first-page":"1","article-title":"El papel de la microglia en la se\u00f1alizaci\u00f3n neuroinflamatoria y la respuesta neuroinmune","volume":"7","year":"2016","journal-title":"Neurobiologia"},{"key":"ref_24","unstructured":"Fortoul van der Goes, D.T.I. (2017). Histolog\u00eda y Biolog\u00eda Celular, McGraw-Hill Education. [3rd ed.]."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.nrl.2012.10.006","article-title":"Papel de la gl\u00eda en la enfermedad de Alzheimer. Futuras implicaciones terap\u00e9uticas","volume":"29","year":"2014","journal-title":"Neurolog\u00eda"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"e81890","DOI":"10.7554\/eLife.81890","article-title":"Microglia orchestrate neuroinflammation","volume":"11","author":"Feldman","year":"2022","journal-title":"Elife"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.immuni.2023.01.008","article-title":"Direct activation of microglia by beta-glucosylceramide causes phagocytosis of neurons that exacerbates Gaucher disease","volume":"56","author":"Shimizu","year":"2023","journal-title":"Immunity"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"e79830","DOI":"10.7554\/eLife.79830","article-title":"Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy","volume":"11","author":"Boddupalli","year":"2022","journal-title":"Elife"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1002\/mds.29314","article-title":"Classification of GBA1 Variants in Parkinson\u2019s Disease: The GBA1-PD Browser","volume":"38","author":"Parlar","year":"2023","journal-title":"Mov. Disord."},{"key":"ref_30","first-page":"100729","article-title":"The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease","volume":"27","author":"Stiles","year":"2021","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_31","first-page":"167","article-title":"Mexican consensus on Gaucher\u2019s disease","volume":"48","year":"2010","journal-title":"Rev. M\u00e9d. Inst. Mex. Seguro"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1002\/jimd.12192","article-title":"Expanding the clinical utility of glucosylsphingosine for Gaucher disease","volume":"43","author":"Saville","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/s13023-023-02623-7","article-title":"Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: A narrative review","volume":"18","author":"Giuffrida","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.ymgme.2019.06.002","article-title":"Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2","volume":"127","author":"Seehra","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1186\/s13023-020-01637-9","article-title":"Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease","volume":"15","author":"Donald","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1016\/j.jfma.2021.09.003","article-title":"Eye motor manifestations in children with neurometabolic disorders","volume":"121","author":"Wang","year":"2022","journal-title":"J. Formos. Med. Assoc."},{"key":"ref_37","unstructured":"IMSS (2013). Gu\u00eda de Pr\u00e1ctica Cl\u00ednica: Diagn\u00f3stico y Tratamiento de la Enfermedad de Gaucher Tipo I."},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Dinur, T., Grittner, U., Revel-Vilk, S., Becker-Cohen, M., Istaiti, M., Cozma, C., Rolfs, A., and Zimran, A. (2021). Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations. Mol. Sci., 22.","DOI":"10.3390\/ijms22147699"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"246","DOI":"10.3892\/etm.2021.9677","article-title":"Successful treatment of Gaucher disease type 1 by enzyme replacement therapy over a 10-year duration in a Japanese pediatric patient: A case report","volume":"21","author":"Oto","year":"2021","journal-title":"Exp. Ther. Med."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1002\/ajh.24877","article-title":"Outcomes after 18 months of eliglustat therapy in treatment-naive adults with Gaucher disease type 1: The phase 3 ENGAGE trial","volume":"92","author":"Mistry","year":"2017","journal-title":"Am. J. Hematol."},{"key":"ref_41","first-page":"32","article-title":"Bases moleculares del tratamiento en la enfermedad de Gaucher","volume":"137","year":"2011","journal-title":"Med. Cl\u00edn."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.ymgme.2016.11.006","article-title":"Gaucher disease: Progress and ongoing challenges","volume":"120","author":"Mistry","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.rce.2022.02.007","article-title":"Recomendaciones para el tratamiento oral de pacientes adultos con enfermedad de Gaucher tipo 1","volume":"222","year":"2022","journal-title":"Rev. Cl\u00edn. Espa\u00f1ola"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1016\/j.clinthera.2023.08.010","article-title":"Effectiveness and Safety of Eliglustat Treatment in Gaucher Disease: Real-life Unicentric Experience","volume":"45","author":"Duminuco","year":"2023","journal-title":"Clin. Ther."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1080\/17474086.2021.1908120","article-title":"Hematological manifestations and complications of Gaucher disease","volume":"14","author":"Szer","year":"2021","journal-title":"Expert Rev. Hematol."},{"key":"ref_46","doi-asserted-by":"crossref","unstructured":"Kulkarni, A., Chen, T., Sidransky, E., and Han, T.U. (2024). Advancements in Viral Gene Therapy for Gaucher Disease. Genes, 15.","DOI":"10.3390\/genes15030364"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.ymgme.2022.03.001","article-title":"The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?","volume":"136","author":"Weinreb","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2111","DOI":"10.7150\/ijbs.87741","article-title":"A review on Gaucher disease: Therapeutic potential of beta-glucocerebrosidase-targeted mRNA\/saRNA approach","volume":"20","author":"Feng","year":"2024","journal-title":"Int. J. Biol. Sci."},{"key":"ref_49","doi-asserted-by":"crossref","unstructured":"Mohamed, F.E., and Al-Jasmi, F. (2024). Exploring the efficacy and safety of Ambroxol in Gaucher disease: An overview of clinical studies. Front. Pharmacol., 15.","DOI":"10.3389\/fphar.2024.1335058"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"20220381","DOI":"10.1098\/rstb.2022.0381","article-title":"Lysosomal storage, impaired autophagy and innate immunity in Gaucher and Parkinson\u2019s diseases: Insights for drug discovery","volume":"379","author":"Hull","year":"2024","journal-title":"Philos. Trans. R. Soc. Lond. B Biol. Sci."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/jha2.852","article-title":"The use of Ambroxol for the treatment of Gaucher disease: A systematic review","volume":"5","author":"Grewal","year":"2024","journal-title":"EJHaem"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1080\/14656566.2021.1902989","article-title":"Current and emerging pharmacotherapy for Gaucher disease in pediatric populations","volume":"22","author":"Sam","year":"2021","journal-title":"Expert Opin. Pharmacother."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"e2406009121","DOI":"10.1073\/pnas.2406009121","article-title":"High-throughput screening for small-molecule stabilizers of misfolded glucocerebrosidase in Gaucher disease and Parkinson\u2019s disease","volume":"121","author":"Williams","year":"2024","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"100329","DOI":"10.1016\/j.gim.2022.10.011","article-title":"Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1","volume":"25","author":"Cox","year":"2023","journal-title":"Genet. Med."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1002\/jbmr.3734","article-title":"Gaucher Disease in Bone: From Pathophysiology to Practice","volume":"34","author":"Hughes","year":"2019","journal-title":"J. Bone Miner. Res."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1093\/qjmed\/hcw002","article-title":"Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: Correlation with Zimran and GAUSS-I index and the severity of bone disease","volume":"109","author":"Torralba","year":"2016","journal-title":"QJM Int. J. Med."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/14\/24\/2840\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T16:53:55Z","timestamp":1760115235000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/14\/24\/2840"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,17]]},"references-count":56,"journal-issue":{"issue":"24","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["diagnostics14242840"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics14242840","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,17]]}}}