{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:38:53Z","timestamp":1790617133558,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,3,14]],"date-time":"2019-03-14T00:00:00Z","timestamp":1552521600000},"content-version":"vor","delay-in-days":13,"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":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Lipin\u20101 is a phosphatidic acid phosphohydrolase (EC 3.1.3.4) that catalyzes the dephosphorylation of phosphatidic acid to diacylglycerol and inorganic phosphate. Deficiency of this enzyme causes potentially fatal severe, recurrent episodes of rhabdomyolysis triggered by infection. The defect has only recently been recognized so little is known about the long\u2010term outcome in adult patients with this disorder. We report the course and outcome of a 25\u2010year\u2010old female patient with lipin\u20101 deficiency after a recent episode of rhabdomyolysis requiring intensive care admission with a peak creatine kinase of 500\u2009000\u2009IU\/L. One\u2010year post discharge from intensive care, the patient has residual drop foot bilaterally consistent with bilateral common peroneal neuropathies in addition to a background residual distal myopathy.<\/jats:p>","DOI":"10.1002\/jmd2.12016","type":"journal-article","created":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T03:49:09Z","timestamp":1694404149000},"page":"4-10","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Long\u2010term outcomes in a 25\u2010year\u2010old female affected with lipin\u20101 deficiency"],"prefix":"10.1002","volume":"46","author":[{"given":"Karolina M.","family":"Stepien","sequence":"first","affiliation":[{"name":"Mark Holland Metabolic Unit, Adult Inherited Metabolic Diseases Salford Royal NHS Foundation Trust  Salford United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang M.","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Department Center for Anatomy and Cell Biology, Medical University of Vienna  Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reginald E.","family":"Bittner","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Department Center for Anatomy and Cell Biology, Medical University of Vienna  Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orna","family":"O'Toole","sequence":"additional","affiliation":[{"name":"Department of Neurology Mercy University Hospital  Cork Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"McNamara","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology Cork University Hospital  Cork Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eileen P.","family":"Treacy","sequence":"additional","affiliation":[{"name":"University College Dublin  Dublin Ireland"},{"name":"Paediatrics Department Trinity College  Dublin Ireland"},{"name":"National Centre for Inherited Metabolic Diseases The Mater Misericordiae University Hospital  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,14]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOL.0b013e32832adee5"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2012.02.033"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9827-7"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21282"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.09.002"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2014.05.003"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04320.x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2015.10.010"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9461-6"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2013.07.021"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M807882200"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M600425200"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2004.12.002"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M019430"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.R800019-JLR200"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.P075440"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M610745200"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/2329048X16684396"},{"key":"e_1_2_9_20_1","article-title":"Myeloid cell\u2010specific Lipin\u20101 deficiency stimulates endocrine adiponectin\u2010FGF15 axis and ameliorates ethanol\u2010induced liver injury in mice","volume":"6","author":"Wang J","year":"2016","journal-title":"Sci Rep"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004210170012"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/00075197-200405000-00005"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1638008"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12016","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T03:49:44Z","timestamp":1694404184000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12016"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["10.1002\/jmd2.12016"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12016","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3]]},"assertion":[{"value":"2019-01-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-01-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}