{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T03:49:08Z","timestamp":1782186548137,"version":"3.54.5"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T00:00:00Z","timestamp":1776816000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T00:00:00Z","timestamp":1776816000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Aims<\/jats:title>\n                    <jats:p>To develop an assay to measure red blood cell (RBC) sorbitol dehydrogenase (SORD) activity for fast laboratory screening of SORD\u2010related neuropathies, and to provide additional phenotypic arguments in case of ambiguous genetic results.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Hemolysates were incubated in the presence of fructose and NADH to produce sorbitol and NAD\n                      <jats:sup>+<\/jats:sup>\n                      . The decrease in absorbance at\n                      <jats:italic>\u03bb<\/jats:italic>\n                      \u2009=\u2009340\u2009nm was monitored throughout the course of the reaction. Results were expressed as % activity compared to a within\u2010run control. A cohort of 38 individuals was evaluated over 13 runs: 13 individuals served as within\u2010run controls, 3 were diagnosed with SORD deficiency, 2 were highly suspected of having SORD deficiency, 1 exhibited incidental genomic findings in the\n                      <jats:italic>SORD<\/jats:italic>\n                      gene, and 19 presented with neuropathy or myopathy of undetermined etiology.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      RBC SORD activity was significantly reduced in individuals diagnosed with SORD deficiency when compared to within\u2010run controls, whereas in contrast, individuals without SORD deficiency did not exhibit this reduction. A comparison of these two groups showed that activities were significantly lower in deficient individuals (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.00006). A test cutoff of &lt;\u200930% yielded 100% sensitivity and specificity to detect deficient individuals.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>This test provides a useful alternative to measuring plasma or urine sorbitol with mass spectrometry, allowing clinicians to directly evaluate SORD activity in RBC. As a result, it enables quick and convenient screening for SORD\u2010related neuropathies during standard clinical procedures.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jns.70122","type":"journal-article","created":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T06:59:35Z","timestamp":1776927575000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Measurement of Red Blood Cell Sorbitol Dehydrogenase Activity for Fast Screening of\n                    <scp>SORD<\/scp>\n                    \u2010Related Neuropathies"],"prefix":"10.1111","volume":"31","author":[{"given":"Nicholas","family":"Moro","sequence":"first","affiliation":[{"name":"AP\u2010HP, Service de Biochimie M\u00e9tabolique et Cellulaire, H\u00f4pital Bichat  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislas","family":"Francois","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Biochimie M\u00e9tabolique et Cellulaire, H\u00f4pital Bichat  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Grondin","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Biochimie M\u00e9tabolique et Cellulaire, H\u00f4pital Bichat  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sirine","family":"Ben Salem","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Biochimie M\u00e9tabolique et Cellulaire, H\u00f4pital Bichat  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sreekanth","family":"Rajagopal","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Biochimie M\u00e9tabolique et Cellulaire, H\u00f4pital Bichat  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duru","family":"Aykut","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Biochimie M\u00e9tabolique et Cellulaire, H\u00f4pital Bichat  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louisa","family":"Arezki","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Biochimie M\u00e9tabolique et Cellulaire, H\u00f4pital Bichat  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Manuel","family":"Larramendi","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Biochimie M\u00e9tabolique et Cellulaire, H\u00f4pital Bichat  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Berquet","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Biochimie\u2010Pharmacologie H\u00f4pital Universitaire Henri Mondor, AP\u2010HP; INSERM U955, Universit\u00e9 Paris\u2010Est\u2010Cr\u00e9teil  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2959-0935","authenticated-orcid":false,"given":"Marjolaine","family":"Willems","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Arnaud de Villeneuve Hospital University Hospital of Montpellier  Montpellier France"},{"name":"Institute for Neurosciences of Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Bouchet\u2010S\u00e9raphin","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Biochimie M\u00e9tabolique et Cellulaire, H\u00f4pital Bichat  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas W.","family":"Gauthier","sequence":"additional","affiliation":[{"name":"Laboratoire AURAGEN Service de G\u00e9n\u00e9tique  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Konyukh","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique, GHU AP\u2010HP H\u00f4pitaux Universitaires Henri\u2010Mondor  Cr\u00e9teil France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Svahn","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Department of Neuromuscular Disorders and Movement Disorders P. Wertheimer Neurology Hospital, Hospices Civils de Lyon  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Moutereau","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Biochimie\u2010Pharmacologie H\u00f4pital Universitaire Henri Mondor, AP\u2010HP; INSERM U955, Universit\u00e9 Paris\u2010Est\u2010Cr\u00e9teil  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8203-1243","authenticated-orcid":false,"given":"Katell","family":"Peoc'h","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Biochimie M\u00e9tabolique et Cellulaire, H\u00f4pital Bichat  Paris France"},{"name":"Universit\u00e9 Paris\u2010Cit\u00e9, INSERM UMRs 1134, BIGR  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Tard","sequence":"additional","affiliation":[{"name":"U1172, Centre de R\u00e9f\u00e9rence Des Maladies Neuromusculaires Nord\/Est\/Ile\u2010de\u2010France, CHU de Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gorka","family":"Fern\u00e1ndez\u2010Eulate","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Centre de R\u00e9f\u00e9rence Des Maladies Neuromusculaires, Service de Neuro\u2010Myologie, Institut de Myologie, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, Sorbonne Universit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Centre de R\u00e9f\u00e9rence Des Maladies Neuromusculaires, Service de Neuro\u2010Myologie, Institut de Myologie, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, Sorbonne Universit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8411-3309","authenticated-orcid":false,"given":"Arnaud","family":"Bruneel","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Biochimie M\u00e9tabolique et Cellulaire, H\u00f4pital Bichat  Paris France"},{"name":"Universit\u00e9 Paris\u2010Saclay, INSERM UMR 1193, Facult\u00e9 de Pharmacie  Orsay France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2651-650X","authenticated-orcid":false,"given":"Alexandre","family":"Raynor","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Biochimie M\u00e9tabolique et Cellulaire, H\u00f4pital Bichat  Paris France"},{"name":"Universit\u00e9 Paris\u2010Cit\u00e9, INSERM UMRs 1134, BIGR  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,22]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-020-0615-4"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(85)90504-2"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.15793"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01884363"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70122","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jns.70122","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70122","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T03:19:59Z","timestamp":1782184799000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.70122"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,22]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1111\/jns.70122"],"URL":"https:\/\/doi.org\/10.1111\/jns.70122","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,22]]},"assertion":[{"value":"2026-01-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70122"}}