{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,15]],"date-time":"2025-08-15T02:12:48Z","timestamp":1755223968390,"version":"3.43.0"},"reference-count":10,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T00:00:00Z","timestamp":1722816000000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a case in which a type 1 Gaucher patient developed ichthyosis weeks after starting substrate reduction therapy (SRT) with eliglustat. There are no reports of ichthyosis in the literature in enzyme replacement or SRT for Gaucher disease. Ichthyosis is seen with type 2 and 3 Gaucher disease, but not type 1. This raises the question: Why would a patient develop ichthyosis after starting SRT?<\/jats:p>","DOI":"10.1002\/ajmg.a.63835","type":"journal-article","created":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T07:30:37Z","timestamp":1722843037000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-9593-0007","authenticated-orcid":false,"given":"Jack","family":"Herbster","sequence":"first","affiliation":[{"name":"Biological Sciences Division The University of Chicago  Chicago Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos E.","family":"Prada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Northwestern University Feinberg School of Medicine  Chicago Illinois USA"},{"name":"Division of Genetics, Genomics &amp; Metabolism Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carly A.","family":"Rasmussen","sequence":"additional","affiliation":[{"name":"Division of Genetics, Genomics &amp; Metabolism Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allegra","family":"Quadri","sequence":"additional","affiliation":[{"name":"Division of Genetics, Genomics &amp; Metabolism Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"Kuritza","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Illinois at Chicago  Chicago Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Viglione","sequence":"additional","affiliation":[{"name":"PRW Laboratories  Charlottesville Virginia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheryl","family":"Hoyer","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Illinois at Chicago  Chicago Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,8,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21326"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/bmmb.1993.1011"},{"key":"e_1_2_8_4_1","first-page":"3635","volume-title":"Metabolic and molecular bases of inherited disease","author":"Beutler E.","year":"2001"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.160.18.2835"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1067\/S0022-3476(03)00302-0"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.160.6.603"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hch036"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.07.004"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD010324.pub2"},{"key":"e_1_2_8_11_1","first-page":"231","article-title":"Chemical differentiation of the Gaucher subtypes","volume":"95","author":"Svennerholm L.","year":"1982","journal-title":"Progress in Clinical and Biological Research"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63835","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T10:16:14Z","timestamp":1754993774000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63835"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,5]]},"references-count":10,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1002\/ajmg.a.63835"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63835","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2024,8,5]]},"assertion":[{"value":"2024-06-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63835"}}