{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:05:42Z","timestamp":1791993942740,"version":"4.4.0"},"reference-count":30,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jns-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2023,10]]},"DOI":"10.1016\/j.jns.2023.120776","type":"journal-article","created":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T20:36:06Z","timestamp":1692995766000},"page":"120776","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Clinical significance of small nerve fiber involvement in the early diagnosis and treatment of patients with Fabry disease"],"prefix":"10.1016","volume":"453","author":[{"given":"Panagiotis","family":"Kokotis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Zompola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aris","family":"Anastasakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aikaterini","family":"Damianaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chrysanthi","family":"Bountziouka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarita","family":"Mpora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stathis","family":"Papatheodorou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgios","family":"Tsivgoulis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2023.120776_bb0005","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"issue":"2","key":"10.1016\/j.jns.2023.120776_bb0010","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1038\/ncpneuro0407","article-title":"Neurological manifestations in Fabry\u2019s disease","volume":"3","author":"M\u00f8ller","year":"2007","journal-title":"Nat. Clin. Pract. Neurol."},{"key":"10.1016\/j.jns.2023.120776_bb0015","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1002\/ana.410230513","article-title":"Nervous system involvement in Fabry\u2019s disease: clinicopathological and biochemical correlation","volume":"23","author":"Kaye","year":"1988","journal-title":"Ann. Neurol."},{"issue":"1","key":"10.1016\/j.jns.2023.120776_bb0020","first-page":"37","article-title":"Paediatric Fabry disease","volume":"5","author":"Ellaway","year":"2016","journal-title":"Transl. Pediatr."},{"key":"10.1016\/j.jns.2023.120776_bb0025","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.pain.2009.06.032","article-title":"Functional and structural nerve fiber findings in heterozygote patients with Fabry disease","volume":"145","author":"Torvin M\u00f8ller","year":"2009","journal-title":"Pain."},{"issue":"1","key":"10.1016\/j.jns.2023.120776_bb0030","first-page":"37","article-title":"Paediatric Fabry disease","volume":"5","author":"Ellaway","year":"2016","journal-title":"Transl. Pediatr."},{"issue":"2","key":"10.1016\/j.jns.2023.120776_bb0035","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.ymgme.2012.03.010","article-title":"Small fiber neuropathy in Fabry disease","volume":"106","author":"Biegstraaten","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jns.2023.120776_bb0040","series-title":"Fabry Disease: Perspectives from 5 Years of FOS","article-title":"Diagnosis of Fabry disease: the role of screening and case-finding studies","author":"Sunder-Plassmann","year":"2006"},{"issue":"7","key":"10.1016\/j.jns.2023.120776_bb0045","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1016\/j.jacc.2020.12.024","article-title":"Cardiac involvement in Fabry disease","volume":"77","author":"Pieroni","year":"2021","journal-title":"J. Am. Coll. Cardiol."},{"issue":"1","key":"10.1016\/j.jns.2023.120776_bb0050","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1161\/STROKEAHA.114.006283","article-title":"Cerebrovascular involvement in Fabry disease: current status of knowledge","volume":"46","author":"Kolodny","year":"2015","journal-title":"Stroke."},{"issue":"6","key":"10.1016\/j.jns.2023.120776_bb0055","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1002\/ana.410080608","article-title":"Human diabetic endoneurial sorbitol, fructose, and myo-inositol related to sural nerve morphometry","volume":"8","author":"Dyck","year":"1980","journal-title":"Ann. Neurol."},{"issue":"2","key":"10.1016\/j.jns.2023.120776_bb0060","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1080\/13506129.2020.1713081","article-title":"Involvement of small nerve fibres and autonomic nervous system in AL amyloidosis: comprehensive characteristics and clinical implications","volume":"27","author":"Kokotis","year":"2020","journal-title":"Amyloid."},{"issue":"4","key":"10.1016\/j.jns.2023.120776_bb0065","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/j.clinph.2009.11.079","article-title":"Nomogram for determining lower limit of the sural response","volume":"121","author":"Kokotis","year":"2010","journal-title":"Clin. Neurophysiol."},{"key":"10.1016\/j.jns.2023.120776_bb0070","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/mus.24918","article-title":"Nomogram for determining the lower normal limits for radial sensory nerve action potentials","volume":"53","author":"Panagiotis","year":"2016","journal-title":"Muscle Nerve"},{"issue":"Pt 7","key":"10.1016\/j.jns.2023.120776_bb0075","doi-asserted-by":"crossref","first-page":"1912","DOI":"10.1093\/brain\/awn093","article-title":"The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology","volume":"131","author":"Devigili","year":"2008","journal-title":"Brain."},{"key":"10.1016\/j.jns.2023.120776_bb0080","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/s13023-015-0253-6","article-title":"Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry working group consensus document","volume":"10","author":"Biegstraaten","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"issue":"7","key":"10.1016\/j.jns.2023.120776_bb0085","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1111\/papr.12221","article-title":"Validation of the Greek version of the DN4 diagnostic questionnaire for neuropathic pain","volume":"15","author":"Sykioti","year":"2015","journal-title":"Pain Pract."},{"issue":"10","key":"10.1016\/j.jns.2023.120776_bb0090","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2019-035182","article-title":"Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative","volume":"10","author":"Hughes","year":"2020","journal-title":"BMJ Open"},{"issue":"3","key":"10.1016\/j.jns.2023.120776_bb0095","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1007\/s10072-009-0211-y","article-title":"Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy","volume":"31","author":"Salviati","year":"2010","journal-title":"Neurol. Sci."},{"issue":"1\u20132","key":"10.1016\/j.jns.2023.120776_bb0100","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.jns.2014.06.029","article-title":"Fabry\u2019s disease","volume":"344","author":"El-Abassi","year":"2014","journal-title":"J. Neurol. Sci."},{"issue":"10","key":"10.1016\/j.jns.2023.120776_bb0105","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1016\/j.neurol.2017.05.007","article-title":"Peripheral nerve involvement in Fabry\u2019s disease: which investigations? A case series and review of the literature","volume":"173","author":"Franques","year":"2017","journal-title":"Rev. Neurol. (Paris)"},{"key":"10.1016\/j.jns.2023.120776_bb0110","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.jns.2018.04.035","article-title":"Quantification of sweat gland innervation in patients with Fabry disease: a case-control study","volume":"390","author":"Kokotis","year":"2018","journal-title":"J. Neurol. Sci."},{"issue":"3","key":"10.1016\/j.jns.2023.120776_bb0115","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1111\/j.1529-8027.2008.00180.x","article-title":"The Utah early neuropathy scale: a sensitive clinical scale for early sensory predominant neuropathy","volume":"13","author":"Singleton","year":"2008","journal-title":"J. Peripher. Nerv. Syst."},{"key":"10.1016\/j.jns.2023.120776_bb0120","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1186\/1471-2377-11-61","article-title":"Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel","volume":"11","author":"Burlina","year":"2011","journal-title":"BMC Neurol."},{"issue":"8","key":"10.1016\/j.jns.2023.120776_bb0125","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1111\/j.1526-4637.2008.00470.x","article-title":"Detection of a characteristic painful neuropathy in Fabry disease: a pilot study","volume":"9","author":"Maag","year":"2008","journal-title":"Pain Med."},{"issue":"2","key":"10.1016\/j.jns.2023.120776_bb0130","doi-asserted-by":"crossref","first-page":"108","DOI":"10.3988\/jcn.2014.10.2.108","article-title":"Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease","volume":"10","author":"Samuelsson","year":"2014","journal-title":"J. Clin. Neurol."},{"issue":"5","key":"10.1016\/j.jns.2023.120776_bb0135","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1002\/mus.27196","article-title":"Assessment of small fiber neuropathy in patients carrying the non-classical Fabry variant p.D313Y","volume":"63","author":"Von Cossel","year":"2021","journal-title":"Muscle Nerve"},{"issue":"10","key":"10.1016\/j.jns.2023.120776_bb0140","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2017-017098","article-title":"Fabry disease due to D313Y and novel GLA mutations","volume":"7","author":"Koulousios","year":"2017","journal-title":"BMJ Open"},{"issue":"19","key":"10.1016\/j.jns.2023.120776_bb0145","doi-asserted-by":"crossref","first-page":"e2188","DOI":"10.1212\/WNL.0000000000201102","article-title":"D313Y variant in Fabry disease: a systematic review and meta-analysis","volume":"99","author":"Palaiodimou","year":"2022","journal-title":"Neurology."},{"key":"10.1016\/j.jns.2023.120776_bb0150","first-page":"4","article-title":"Small Fiber neuropathy in Fabry disease: a review of pathophysiology and treatment","author":"Politei","year":"2016","journal-title":"J. Inborn Errors Metab. Screen."}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X2300237X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X2300237X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T16:04:37Z","timestamp":1758384277000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X2300237X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10]]},"references-count":30,"alternative-id":["S0022510X2300237X"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2023.120776","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2023,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical significance of small nerve fiber involvement in the early diagnosis and treatment of patients with Fabry disease","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2023.120776","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"120776"}}