{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T01:47:55Z","timestamp":1792460875312,"version":"4.5.0"},"reference-count":202,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2017,2,17]],"date-time":"2017-02-17T00:00:00Z","timestamp":1487289600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1\/40,000 to 1\/60,000 births, rising to 1\/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD\u2014but also carriers of GBA1 mutation\u2014have been found to be predisposed to developing Parkinson\u2019s disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT) using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase). Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat).<\/jats:p>","DOI":"10.3390\/ijms18020441","type":"journal-article","created":{"date-parts":[[2017,2,17]],"date-time":"2017-02-17T12:10:34Z","timestamp":1487333434000},"page":"441","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":790,"title":["A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments"],"prefix":"10.3390","volume":"18","author":[{"given":"J\u00e9r\u00f4me","family":"Stirnemann","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Geneva University Hospital, Rue Gabrielle-Perret-Gentil 4, CH-1211 Gen\u00e8ve, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Belmatoug","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Reference Center for Lysosomal Storage Diseases, H\u00f4pitaux Universitaires Paris Nord Val de Seine, site Beaujon, Assistance Publique-H\u00f4pitaux de Paris, 100 boulevard du G\u00e9n\u00e9ral Leclerc, F-92110 Clichy la Garenne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrice","family":"Camou","sequence":"additional","affiliation":[{"name":"R\u00e9animation M\u00e9dicale, H\u00f4pital Saint Andr\u00e9, CHU de Bordeaux, 1 rue Jean Burguet, F-33075 Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Serratrice","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Geneva University Hospital, Rue Gabrielle-Perret-Gentil 4, CH-1211 Gen\u00e8ve, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[{"name":"Service de Biochimie et Biologie Mol\u00e9culaire Grand Est, unit\u00e9 des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme et D\u00e9pistage N\u00e9onatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, F-69677 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Caillaud","sequence":"additional","affiliation":[{"name":"Inserm U1151, Institut Necker Enfants Malades, Universit\u00e9 Paris Descartes, Laboratoire de Biochimie, M\u00e9tabolomique et Prot\u00e9omique, H\u00f4pital Universitaire Necker Enfants Malades, Assistance Publique-H\u00f4pitaux de Paris, 149 rue de S\u00e8vres, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Levade","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) UMR1037, Centre de Recherches en Canc\u00e9rologie de Toulouse (CRCT), Universit\u00e9 Paul Sabatier, Laboratoire de Biochimie M\u00e9tabolique, Institut F\u00e9d\u00e9ratif de Biologie, CHU Purpan, F-31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Astudillo","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) UMR1037, Equipe Labellis\u00e9e Ligue Contre le Cancer 2013, Centre de Recherches en Cancerologie de Toulouse (CRCT), Universit\u00e9 de Toulouse, Service de M\u00e9decine Interne, CHU Purpan, F-31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Serratrice","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Geneva University Hospital, Rue Gabrielle-Perret-Gentil 4, CH-1211 Gen\u00e8ve, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana\u00efs","family":"Brassier","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme de l\u2019Enfant et de l\u2019Adulte (MaMEA), H\u00f4pital Necker-Enfants Malades, Assistance Publique-H\u00f4pitaux de Paris, Universit\u00e9 Paris Descartes, Institut Imagine, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Rose","sequence":"additional","affiliation":[{"name":"Service d\u2019onco-h\u00e9matologie, Saint-Vincent de Paul Hospital, Boulevard de Belfort, Universit\u00e9 Catholique de Lille, Univ. Nord de France, F-59000 Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Billette de Villemeur","sequence":"additional","affiliation":[{"name":"Service de Neurop\u00e9diatrie, Pathologie du d\u00e9veloppement, Sorbonne Universit\u00e9, Reference Center for Lysosomal Diseases, H\u00f4pital Trousseau, Assistance Publique-H\u00f4pitaux de Paris, 24 Avenue du docteur Arnold Netter, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1858-0587","authenticated-orcid":false,"given":"Marc","family":"Berger","sequence":"additional","affiliation":[{"name":"CHU Estaing et Universit\u00e9 Clermont Auvergne, Hematology (Biology) et EA 7453 CHELTER, F-63000 Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2017,2,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.semcdb.2004.03.003","article-title":"The pathogenesis of glycosphingolipid storage disorders","volume":"15","author":"Ginzburg","year":"2004","journal-title":"Semin. 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