{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T19:49:37Z","timestamp":1769456977290,"version":"3.49.0"},"reference-count":38,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,5,12]],"date-time":"2022-05-12T00:00:00Z","timestamp":1652313600000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the\n                    <jats:italic>GBA<\/jats:italic>\n                    gene. We report the first case of the rare p.Arg87Trp pathogenic variant (formerly known as R48W) of the\n                    <jats:italic>GBA<\/jats:italic>\n                    gene in the Tunisian population. A female Arab patient was assessed at the age of 26 due to abdominal distension, bone pain, and headache since she was 25. Physical examination revealed splenomegaly, rib deformation, lumbar scoliosis, and upper limb tremor. Bone marrow was infiltrated by Gaucher cells. The patient was homozygous for the rare p.Arg87Trp variant which is known to be associated with a mild phenotype. This report highlights the necessity of screening the Tunisian population for this rare variant.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.5846","type":"journal-article","created":{"date-parts":[[2022,5,12]],"date-time":"2022-05-12T10:14:37Z","timestamp":1652350477000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A rare homozygous p.Arg87Trp variant of the\n                    <i>GBA<\/i>\n                    gene in Gaucher disease: A case report"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7433-0294","authenticated-orcid":false,"given":"Houweyda","family":"Jilani","sequence":"first","affiliation":[{"name":"Genetic Department Mongi Slim Hospital  Marsa, Tunis Tunisia"},{"name":"Genetic Laboratory Faculty of Medicine of Tunis University of Tunis El Manar  Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faten","family":"Hsoumi","sequence":"additional","affiliation":[{"name":"Genetic Department Mongi Slim Hospital  Marsa, Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imen","family":"Rejeb","sequence":"additional","affiliation":[{"name":"Genetic Department Mongi Slim Hospital  Marsa, Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasmina","family":"Elaribi","sequence":"additional","affiliation":[{"name":"Genetic Department Mongi Slim Hospital  Marsa, Tunis Tunisia"},{"name":"Genetic Laboratory Faculty of Medicine of Tunis University of Tunis El Manar  Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syrine","family":"Hizem","sequence":"additional","affiliation":[{"name":"Genetic Department Mongi Slim Hospital  Marsa, Tunis Tunisia"},{"name":"Genetic Laboratory Faculty of Medicine of Tunis University of Tunis El Manar  Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Molka","family":"Sebai","sequence":"additional","affiliation":[{"name":"Genetic Department Mongi Slim Hospital  Marsa, Tunis Tunisia"},{"name":"Genetic Laboratory Faculty of Medicine of Tunis University of Tunis El Manar  Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arndt","family":"Rolfs","sequence":"additional","affiliation":[{"name":"CENTOGENE AG  Rostock Germany"},{"name":"Medical Faculty University of Rostock  Rostock Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lamia","family":"Benjemaa","sequence":"additional","affiliation":[{"name":"Genetic Department Mongi Slim Hospital  Marsa, Tunis Tunisia"},{"name":"Genetic Laboratory Faculty of Medicine of Tunis University of Tunis El Manar  Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,5,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.1995.0004"},{"key":"e_1_2_9_4_1","unstructured":"GaucherPC.De l\u2019epithelioma primitif de la rate hypertrophie idiopathique de la rate sans leucemie. 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