{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T05:53:07Z","timestamp":1791611587300,"version":"4.3.4"},"reference-count":35,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2013,7,1]],"date-time":"2013-07-01T00:00:00Z","timestamp":1372636800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Funda\u00e7\u00e3o para a Ci\u00eancia e Tecnologia","award":["FCT\/SFRH\/BD\/41759\/2007"],"award-info":[{"award-number":["FCT\/SFRH\/BD\/41759\/2007"]}]},{"name":"INSARJ"},{"DOI":"10.13039\/501100001677","name":"INSERM","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Universit\u00e9 Paul Sabatier"}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2013,7]]},"DOI":"10.1016\/j.ymgme.2013.04.019","type":"journal-article","created":{"date-parts":[[2013,5,4]],"date-time":"2013-05-04T18:18:22Z","timestamp":1367691502000},"page":"276-281","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":30,"title":["Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene"],"prefix":"10.1016","volume":"109","author":[{"given":"Mariana Q.","family":"Alves","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Le Trionnaire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isaura","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Carpentier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Harzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Levade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Gil","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2013.04.019_bb0005","doi-asserted-by":"crossref","first-page":"3131","DOI":"10.1016\/S0021-9258(18)51879-2","article-title":"Enzymic hydrolysis and synthesis of ceramides","volume":"238","author":"Gatt","year":"1963","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0010","doi-asserted-by":"crossref","first-page":"35352","DOI":"10.1074\/jbc.M103066200","article-title":"Human acid ceramidase: processing, glycosylation, and lysosomal targeting","volume":"276","author":"Ferlinz","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0015","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1074\/jbc.270.19.11098","article-title":"Purification, characterization and biosynthesis of human acid ceramidase","volume":"270","author":"Bernardo","year":"1995","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0020","doi-asserted-by":"crossref","first-page":"11253","DOI":"10.1074\/jbc.M709166200","article-title":"Autoproteolytic cleavage and activation of human acid ceramidase","volume":"283","author":"Shtraizent","year":"2008","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0025","doi-asserted-by":"crossref","first-page":"33110","DOI":"10.1074\/jbc.271.51.33110","article-title":"Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification of the first molecular lesion causing Farber disease","volume":"271","author":"Koch","year":"1996","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0030","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1006\/geno.1999.5940","article-title":"The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression","volume":"62","author":"Li","year":"1999","journal-title":"Genomics"},{"key":"10.1016\/j.ymgme.2013.04.019_bb0035","series-title":"The Online Metabolic Bases of Inherited Disease","first-page":"3573","article-title":"Acid ceramidase deficiency: Farber lipogranulomatosis","author":"Moser","year":"2001"},{"key":"10.1016\/j.ymgme.2013.04.019_bb0040","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/S0022-3476(84)81106-3","article-title":"Phenotypic variability in siblings with Farber disease","volume":"104","author":"Antonarakis","year":"1984","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0045","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1002\/ajmg.1320280528","article-title":"Farber disease: pathologic diagnosis in sibs with phenotypic variability","volume":"3","author":"Qualman","year":"1987","journal-title":"Am. J. Med. Genet. Suppl."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0050","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1007\/BF01799842","article-title":"Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case","volume":"19","author":"Nowaczyk","year":"1996","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0055","series-title":"The Online Metabolic and Molecular Bases of Inherited Disease, Part 16, Chapter 143","article-title":"Acid ceramidase deficiency: Farber lipogranulomatosis","author":"Levade","year":"2009"},{"key":"10.1016\/j.ymgme.2013.04.019_bb0060","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/humu.5","article-title":"Molecular analysis of acid ceramidase deficiency in patients with Farber disease","volume":"17","author":"B\u00e4r","year":"2001","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0065","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.braindev.2011.07.003","article-title":"Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system","volume":"34","author":"Chedrawi","year":"2012","journal-title":"Brain Dev."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0070","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.ejpn.2010.06.002","article-title":"Farber lipogranulomatosis type 1-late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation","volume":"15","author":"Cvitanovic-Sojat","year":"2011","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0075","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1007\/s10038-006-0019-z","article-title":"Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family","volume":"51","author":"Devi","year":"2006","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0080","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.braindev.2011.09.006","article-title":"A novel mutation in an atypical presentation of the rare infantile Farber disease","volume":"34","author":"Al Jasmin","year":"2012","journal-title":"Brain Dev."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0085","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1023\/A:1022047408477","article-title":"Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease","volume":"25","author":"Muramatsu","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0090","first-page":"320","article-title":"Novel biochemical abnormalities and genotype in Farber disease","volume":"49","author":"Muranjan","year":"2011","journal-title":"Indian Pediatr."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0095","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1006\/mgme.2000.3029","article-title":"Human acid ceramidase gene: novel mutations in Farber disease","volume":"70","author":"Zhang","year":"2000","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0100","doi-asserted-by":"crossref","DOI":"10.1007\/s10545-012-9573-z","article-title":"Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis","author":"Kostik","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0105","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.ajhg.2012.05.001","article-title":"Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1","volume":"91","author":"Zhou","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0110","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/s002920050148","article-title":"Disseminated lipogranulomatosis (Farber disease) with hydrops fetalis","volume":"17","author":"Sch\u00e4fer","year":"1996","journal-title":"Pathologe"},{"key":"10.1016\/j.ymgme.2013.04.019_bb0115","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1007\/s004310050603","article-title":"Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease","volume":"156","author":"Kattner","year":"1997","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0120","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/0009-8981(95)06173-8","article-title":"A simple method for screening for Farber disease on cultured skin fibroblasts","volume":"245","author":"Chatelut","year":"1996","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2013.04.019_bb0125","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1089\/10430349950018003","article-title":"Retrovirus-mediated correction of the metabolic defect in cultured Farber disease cells","volume":"10","author":"Medin","year":"1999","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0130","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human splicing finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0135","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","article-title":"Maximum entropy modeling of short sequence motifs with applications to RNA signaling signals","volume":"11","author":"Yeo","year":"2004","journal-title":"J. Comput. Biol."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0140","doi-asserted-by":"crossref","first-page":"D94","DOI":"10.1093\/nar\/gks955","article-title":"Non-B DNA v2.0: a database of predicted non-B DNA-forming motifs and its associated tools","volume":"41","author":"Cer","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0145","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/S0006-291X(05)81480-9","article-title":"Changes in bioactive lipids, alkylacylglycerol and ceramide, occur in HIV-infected cells","volume":"31","author":"Van Veldhoven","year":"1992","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0150","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/0076-6879(87)41077-X","article-title":"Quantitative measurement of sn-1,2-diacylglycerols","volume":"141","author":"Preiss","year":"1987","journal-title":"Methods Enzymol."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0155","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/0076-6879(66)08014-5","article-title":"Assay of inorganic phosphate, total phosphate and phosphatases","volume":"8","author":"Ames","year":"1966","journal-title":"Methods Enzymol."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0160","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/j.neuint.2010.08.012","article-title":"Aberrant regulation of alternative pre-mRNA splicing in schizophrenia","volume":"57","author":"Morikawa","year":"2010","journal-title":"Neurochem. Int."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0165","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1159\/000092503","article-title":"Retrotransposable elements and human disease","volume":"1","author":"Callinan","year":"2006","journal-title":"Genome Dyn."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0170","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/mc.20507","article-title":"Non-B DNA conformations as determinants of mutagenesis and human diseases","volume":"48","author":"Bacolla","year":"2009","journal-title":"Mol. Carcinog."},{"key":"10.1016\/j.ymgme.2013.04.019_bb0175","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1146\/annurev.biochem.76.050106.093909","article-title":"The nonsense-mediated decay RNA surveillance pathway","volume":"76","author":"Chang","year":"2007","journal-title":"Annu. Rev. Biochem."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719213001467?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719213001467?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T02:38:36Z","timestamp":1644979116000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719213001467"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7]]},"references-count":35,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["S1096719213001467"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2013.04.019","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2013,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2013.04.019","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}