{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T11:46:44Z","timestamp":1784720804091,"version":"3.55.0"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T00:00:00Z","timestamp":1730160000000},"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":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Arginase 1 deficiency (ARG1\u2010D) is an ultrarare, metabolic disease which may cause spastic paraplegia, cognitive deficiency, seizures, and ultimately severe disability. The aim of this study was to assess disease burden in ARG1\u2010D by performing a cross\u2010sectional survey of patients with ARG1\u2010D and their caregivers in four European countries (France, Portugal, Spain, and the United Kingdom). Patients were enrolled at participating clinics and data were collected using a web\u2010based questionnaire. The findings indicate that there is a significant share of patients who experience severe cognitive and mobility impairment but also that there is a considerable variance in symptom severity among patients. Disease management was mostly in line with treatment guidelines and self\u2010reported adherence to treatment was reported to be high among a majority although following diet restrictions was perceived as difficult. However, despite this, since a large share of patients experienced severe cognitive and mobility impairment an unmet need among this patient population is suggested. The introduction of disease\u2010modifying therapies and early identification and diagnosis may help alleviate the disease burden associated with ARG1\u2010D in the future.<\/jats:p>","DOI":"10.1002\/jmd2.12456","type":"journal-article","created":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T07:32:59Z","timestamp":1730187179000},"page":"450-460","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross\u2010sectional survey"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2609-2065","authenticated-orcid":false,"given":"Sara","family":"Olofsson","sequence":"first","affiliation":[{"name":"The Swedish Institute for Health Economics, IHE  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"L\u00f6fvendahl","sequence":"additional","affiliation":[{"name":"The Swedish Institute for Health Economics, IHE  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Wid\u00e9n","sequence":"additional","affiliation":[{"name":"Immedica Pharma AB  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lena","family":"Jacobson","sequence":"additional","affiliation":[{"name":"Immedica Pharma AB  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Lindgren","sequence":"additional","affiliation":[{"name":"The Swedish Institute for Health Economics, IHE  Lund Sweden"},{"name":"Karolinska Institutet  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina M.","family":"Stepien","sequence":"additional","affiliation":[{"name":"Salford Royal Organization, Northern Care Alliance NHS Foundation Trust  Salford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Baptiste","family":"Arnoux","sequence":"additional","affiliation":[{"name":"Necker Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Luz Couce Pico","sequence":"additional","affiliation":[{"name":"Hospital Clinico Universitario de Santiago de Compostela, IDIS, MetabERN  Santiago de Compostela Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Le\u00e3o Teles","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, MetabERN  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mattias","family":"Rudebeck","sequence":"additional","affiliation":[{"name":"Immedica Pharma AB  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,10,29]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010022\u201002226\u20108"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.07.008"},{"key":"e_1_2_14_4_1","unstructured":"DiazG LongoN BubbG et al.Delays in diagnosis are associated with poor clinical outcomes in patients with arginase 1 deficiency. 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