{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T23:01:36Z","timestamp":1790809296533,"version":"4.1.0"},"reference-count":7,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,7,5]],"date-time":"2020-07-05T00:00:00Z","timestamp":1593907200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100007723","name":"Oxford University Press","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007723","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005614","name":"Biogen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005614","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genetic variations in the <jats:italic>ASAH1<\/jats:italic> gene are associated with a spectrum of disorders ranging from Farber disease (FD) to spinal muscular atrophy with or without progressive myoclonic epilepsy (SMA\u2010PME). FD presents most commonly in infants with subcutaneous joint nodules, progressive arthritis and granulomas of the larynx and epiglottis leading to a hoarse cry. SMA\u2010PME is characterized by childhood onset progressive weakness due to motor neuron disease followed by progressive epilepsy, tremor, and sensorineural hearing loss. We present a case of a 4\u2010year\u2010old boy with phenotypic features of both FD and SMA who was found to have two previously unreported heterozygous variants in the <jats:italic>ASAH1<\/jats:italic> gene.<\/jats:p>","DOI":"10.1002\/ajmg.a.61764","type":"journal-article","created":{"date-parts":[[2020,7,6]],"date-time":"2020-07-06T06:50:14Z","timestamp":1594018214000},"page":"2369-2371","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Spinal muscular atrophy and Farber disease due to <scp><i>ASAH1<\/i><\/scp> variants: A case report"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9646-4018","authenticated-orcid":false,"given":"Bo Hoon","family":"Lee","sequence":"first","affiliation":[{"name":"Division of Child Neurology, Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip","family":"Mongiovi","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Levade","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie CHU Toulouse and Universit\u00e9 Paul Sabatier  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bethany","family":"Marston","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rheumatology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan","family":"Mountain","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Ciafaloni","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.D010033"},{"key":"e_1_2_8_3_1","volume-title":"GeneReviews\u00ae","author":"Dyment D. 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