{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T12:17:03Z","timestamp":1783772223271,"version":"3.55.0"},"reference-count":27,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,11,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_cclm-2020-0306_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Gaucher disease (GD) is the most common inherited lysosomal storage disease, caused by mutations in acid \u03b2-glucosidase (\n                      <jats:italic>GBA<\/jats:italic>\n                      ) gene. This study aimed to identify mutations in Andalusia patients with GD and their genotype-phenotype correlation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_cclm-2020-0306_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Descriptive observational study. University Hospital Virgen del Rocio patients diagnosed from GD from 1999 to 2019 were included. Demographic and clinical data, \u03b2-glucocerebrosidase activity, variants pathogenic in\n                      <jats:italic>GBA<\/jats:italic>\n                      gene and biomarkers for monitoring treatment were collected from digital medical record.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_cclm-2020-0306_abs_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Twenty-six patients with aged between 1\u00a0day and 52 years were studied. A total of six mutations described as pathogenic and one mutation not described above [c.937T&gt;C (p.Tyr313His)] were identified in the\n                      <jats:italic>GBA<\/jats:italic>\n                      gene, four patients were homozygotes and 22 compound heterozygotes. Twenty-four patients were diagnosed in non-neuropathic form (type 1) and two cases presented neurological involvement (type 2 or 3). The most common variant was c.1226A&gt;G (p.Asn409Ser), which was detected in 24 patients, followed by c.1448T&gt;C (p.Leu483Pro) variant, identified in 13 patients. The c.1448T&gt;C (p.Leu483Pro) mutation has been presented in the most severe phenotypes with neurological involvement associated with type 2 and 3 GD, while c.1226A&gt;G (p.Asn409Ser) mutation has not been associated with neurological alterations. Splenomegaly and bone disease were the most frequent clinical manifestations, and thrombocytopenia was the most common hematological disorder.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_cclm-2020-0306_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The c.1226A&gt;G (p.Asn409Ser) and c.1448T&gt;C (p.Leu483Pro) mutations were the most common. The c.937T&gt;C (p.Tyr313His) was identified as a novel mutation. The c.1448T&gt;C (p.Leu483Pro) mutation was associated with neurological alterations and c.1226A&gt;G (p.Asn409Ser) mutation has not been associated it.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/cclm-2020-0306","type":"journal-article","created":{"date-parts":[[2020,7,10]],"date-time":"2020-07-10T08:44:07Z","timestamp":1594370647000},"page":"2017-2024","source":"Crossref","is-referenced-by-count":14,"title":["Genotype\/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene"],"prefix":"10.1515","volume":"58","author":[{"given":"Esperanza","family":"Lepe-Balsalobre","sequence":"first","affiliation":[{"name":"Molecular Diagnosis and Rare Diseases Laboratory , Department of Clinical Biochemistry , Hospital Universitario Virgen del Roc\u00edo , Seville , Spain"},{"name":"Fundaci\u00f3n JL Casta\u00f1o , Sociedad Espa\u00f1ola de Medicina de Laboratorio , Barcelona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8851-7551","authenticated-orcid":false,"given":"Jos\u00e9 D.","family":"Santotoribio","sequence":"additional","affiliation":[{"name":"Molecular Diagnosis and Rare Diseases Laboratory , Department of Clinical Biochemistry , Hospital Universitario Virgen del Roc\u00edo , Seville , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramiro","family":"Nu\u00f1ez-Vazquez","sequence":"additional","affiliation":[{"name":"Unidad de Hemofilia , Department of Hematology , Hospital Universitario Virgen del Roc\u00edo , Seville , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvador","family":"Garc\u00eda-Morillo","sequence":"additional","affiliation":[{"name":"Unidad de Colagenosis y Enfermedades Minoritarias, Unidad Experimental de Riesgo Cardiovascular , Department of Internal Medicine , Hospital Universitario Virgen del Roc\u00edo , Seville , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Jim\u00e9nez-Arriscado","sequence":"additional","affiliation":[{"name":"Molecular Diagnosis and Rare Diseases Laboratory , Department of Clinical Biochemistry , Hospital Universitario Virgen del Roc\u00edo , Seville , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Hern\u00e1ndez-Ar\u00e9valo","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n P\u00fablica Andaluza para la Gesti\u00f3n de la Investigaci\u00f3n en Salud de Sevilla (FISEVI), Hospital Universitario Virgen del Roc\u00edo , Seville , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roc\u00edo","family":"Delarosa-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n P\u00fablica Andaluza para la Gesti\u00f3n de la Investigaci\u00f3n en Salud de Sevilla (FISEVI), Hospital Universitario Virgen del Roc\u00edo , Seville , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan M.","family":"Guerrero","sequence":"additional","affiliation":[{"name":"Molecular Diagnosis and Rare Diseases Laboratory , Department of Clinical Biochemistry , Hospital Universitario Virgen del Roc\u00edo , Seville , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hada C.","family":"Macher","sequence":"additional","affiliation":[{"name":"Molecular Diagnosis and Rare Diseases Laboratory , Department of Clinical Biochemistry , Hospital Universitario Virgen del Roc\u00edo , Seville , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2020,6,25]]},"reference":[{"key":"2026071112021984311_j_cclm-2020-0306_ref_001","doi-asserted-by":"crossref","unstructured":"Sidransky, E. 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