{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T23:36:39Z","timestamp":1722296199102},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,6,26]],"date-time":"2022-06-26T00:00:00Z","timestamp":1656201600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gaucher disease (GD) is a lysosomal disorder characterized by the storage of glucosylceramide in macrophages (\u201cGaucher cells\u201d), particularly in the spleen, liver, and bone marrow. The most common phenotype, GD type 1, usually presents with hepatosplenomegaly, cytopenias, and sometimes bone involvement at variable age. Enzyme replacement therapy (ERT) is available and effective, but some severe manifestations are irreversible (e.g., osteonecrosis), so that early treatment is crucial. We describe a 4\u2010year\u2010old Albanian male with GD type 1, diagnosed through newborn screening (NBS), presented during follow up with multiple osteonecrotic areas in both femurs. He had no other symptoms or signs of disease, except for increasing of lyso\u2010Gb1 biomarker. Early initiation of ERT allowed a partial improvement of bone lesions. Our case highlights the importance of NBS for GD and of close follow\u2010up of presymptomatic patients, especially if biomarker levels are increasing. In the absence of NBS, GD should be considered in patients who present with bone lesions, also isolated. Early diagnosis and treatment improve the course of disease and avoid irreversible sequelae.<\/jats:p>","DOI":"10.1002\/jmd2.12314","type":"journal-article","created":{"date-parts":[[2022,6,27]],"date-time":"2022-06-27T04:39:35Z","timestamp":1656304775000},"page":"414-419","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Bone disease in early detected Gaucher Type I disease: A case report"],"prefix":"10.1002","volume":"63","author":[{"given":"Vincenza","family":"Gragnaniello","sequence":"first","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services University Hospital  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro P.","family":"Burlina","sequence":"additional","affiliation":[{"name":"Neurology Unit St Bassiano Hospital  Bassano del Grappa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renzo","family":"Manara","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University Hospital  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Cazzorla","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services University Hospital  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Rubert","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services University Hospital  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Gueraldi","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services University Hospital  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ermanno","family":"Toniolli","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Radiology St Bassiano Hospital  Bassano del Grappa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilio","family":"Quaia","sequence":"additional","affiliation":[{"name":"Department of Radiology University Hospital  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto B.","family":"Burlina","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services University Hospital  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,6,26]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-012-1771-z"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.160.18.2835"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.160.6.603"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18020441"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3734"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2016.10.004"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10354-010-0814-1"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1746-1596-5-65"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2021.12.009"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-02034-6"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbspin.2010.02.045"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(02)01150-6"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2020.03.016"},{"issue":"5","key":"e_1_2_11_15_1","first-page":"699","article-title":"Screening for Gaucher disease using dried blood spot tests: a Japanese multicenter","volume":"60","author":"Miyamoto T","year":"2021","journal-title":"Cross\u2010Sectional Survey Intern Med"},{"issue":"10","key":"e_1_2_11_16_1","first-page":"709","article-title":"Coxopathie r\u00e9cidivante, manifestation isol\u00e9e d'une maladie de Gaucher [recurrent coxopathy, isolated manifestation of Gaucher's disease]","volume":"48","author":"Graber D","year":"1991","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_11_17_1","first-page":"2S50\u20102","article-title":"Maladie de Gaucher diagnostiqu\u00e9e en p\u00e9diatrie: une atteinte osseuse inaugurale [Gaucher disease diagnosed in pediatrics: an early bone involvement]","author":"Kennouche S","year":"2009","journal-title":"Presse Med"},{"issue":"5","key":"e_1_2_11_18_1","first-page":"487","article-title":"Grupo de estudio bone involvement Gaucher disease (BIG). 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