{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:43:17Z","timestamp":1790419397922,"version":"4.1.0"},"reference-count":107,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2020,5,21]],"date-time":"2020-05-21T00:00:00Z","timestamp":1590019200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biology"],"abstract":"<jats:p>Prolidase is a ubiquitous enzyme that plays a major role in the metabolism of proline-rich proteins. Prolidase deficiency is a rare autosomal recessive inborn metabolic and multisystemic disease, characterized by a protean association of symptoms, namely intellectual disability, recurrent infections, splenomegaly, skin lesions, auto-immune disorders and cytopenia. To our knowledge, no published review has assembled the different clinical data and research studies over prolidase deficiency. The aim of this study is to summarize the actual state of the art from the descriptions of all the patients with a molecular diagnosis of prolidase deficiency reported to date regarding the clinical, biological, histopathological features, therapeutic options and functional studies.<\/jats:p>","DOI":"10.3390\/biology9050108","type":"journal-article","created":{"date-parts":[[2020,5,21]],"date-time":"2020-05-21T11:31:18Z","timestamp":1590060678000},"page":"108","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Clinical Genetics of Prolidase Deficiency: An Updated Review"],"prefix":"10.3390","volume":"9","author":[{"given":"Marta","family":"Spodenkiewicz","sequence":"first","affiliation":[{"name":"Service de g\u00e9n\u00e9tique, AMH2, CHU Reims, UFR de m\u00e9decine, 51100 Reims, France"},{"name":"SFR CAP SANTE, UFR de m\u00e9decine, 51100 Reims, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Spodenkiewicz","sequence":"additional","affiliation":[{"name":"CESM\u2014P\u00f4le de Sant\u00e9 Mentale, CRIA, CIC-EC 1410 CHU de La R\u00e9union, 97448 Saint-Pierre CEDEX, La R\u00e9union, France"},{"name":"Equipe MOODS Inserm U1178, CESP, 94807 Villejuif, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maureen","family":"Cleary","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital NHS Foundation Trust and NIHR Biomedical Research Centre, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Massier","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique, AMH2, CHU Reims, UFR de m\u00e9decine, 51100 Reims, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgos","family":"Fitsialos","sequence":"additional","affiliation":[{"name":"The European Center for Genetics and DNA Identification, DNAlogy. 98 Vouliagmenis Ave. Glyfada, 16674 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Cottin","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, National Reference Coordinating Center for Rare Pulmonary Diseases, Louis Pradel Hospital, Hospices Civils de Lyon, Lyon, France; Claude Bernard University, Lyon 1, UMR754, IVPC, F-69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Jouret","sequence":"additional","affiliation":[{"name":"National Center of Genetics\u2014Laboratoire National de Sant\u00e9, L-3555 Dudelange, Luxembourg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Poirsier","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique, AMH2, CHU Reims, UFR de m\u00e9decine, 51100 Reims, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Doco-Fenzy","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique, AMH2, CHU Reims, UFR de m\u00e9decine, 51100 Reims, France"},{"name":"SFR CAP SANTE, UFR de m\u00e9decine, 51100 Reims, France"},{"name":"EA3801, 51100 Reims, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7519-9822","authenticated-orcid":false,"given":"Anne-Sophie","family":"L\u00e8bre","sequence":"additional","affiliation":[{"name":"SFR CAP SANTE, UFR de m\u00e9decine, 51100 Reims, France"},{"name":"P\u00f4le de Biologie Territoriale, CHU Reims, Service de G\u00e9n\u00e9tique, 51100 Reims, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,5,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/j.1365-2672.2012.05310.x","article-title":"Prolidase function in proline metabolism and its medical and biotechnological applications","volume":"113","author":"Kitchener","year":"2012","journal-title":"J. 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