{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T14:08:25Z","timestamp":1794406105266,"version":"4.9.0"},"publisher-location":"Berlin, Heidelberg","reference-count":22,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"value":"9783642280955","type":"print"},{"value":"9783642280962","type":"electronic"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011]]},"DOI":"10.1007\/8904_2011_104","type":"book-chapter","created":{"date-parts":[[2011,12,10]],"date-time":"2011-12-10T08:29:55Z","timestamp":1323505795000},"page":"95-98","source":"Crossref","is-referenced-by-count":6,"title":["Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrum of Early Onset Gaucher Disease"],"prefix":"10.1007","author":[{"given":"Abdallah F.","family":"Elias","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Ronningen","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John K.","family":"Boitnott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Valle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,12,11]]},"reference":[{"key":"104_CR1","doi-asserted-by":"publisher","first-page":"1000","DOI":"10.1016\/S0140-6736(95)91688-1","volume":"346","author":"A Abrahamov","year":"1995","unstructured":"Abrahamov A, Elstein D, Gross-Tsur V, Farber B, Glaser Y, Hadas-Halpern I et al (1995) Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet 346:1000\u20131003","journal-title":"Lancet"},{"key":"104_CR2","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1093\/qjmed\/90.1.19","volume":"90","author":"MJ Allen","year":"1997","unstructured":"Allen MJ, Myer BJ, Khokher AM, Rushton N, Cox TM (1997) Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. QJM 90:19\u201325","journal-title":"QJM"},{"key":"104_CR3","doi-asserted-by":"publisher","first-page":"1399","DOI":"10.1111\/j.1651-2227.2002.tb02841.x","volume":"91","author":"C Barbier","year":"2002","unstructured":"Barbier C, Devisme L, Dobbelaere D, Noizet O, Nelken B, Gottrand F (2002) Neonatal cholestasis and infantile Gaucher disease: a case report. Acta Paediatr 91:1399\u20131401","journal-title":"Acta Paediatr"},{"key":"104_CR4","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1038\/jp.2008.179","volume":"29","author":"H Ben Turkia","year":"2009","unstructured":"Ben Turkia H, Tebib N, Azzouz H, Abdelmoula MS, Ben Chehida A, Caillaud C et al (2009) Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease. J Perinatol 29:170\u2013172","journal-title":"J Perinatol"},{"key":"104_CR5","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1002\/(SICI)1096-8628(19981204)80:4<343::AID-AJMG8>3.0.CO;2-W","volume":"80","author":"B Cormand","year":"1998","unstructured":"Cormand B, Harboe TL, Gort L, Campoy C, Blanco M, Chamoles N et al (1998) Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation. Am J Med Genet 80:343\u2013351","journal-title":"Am J Med Genet"},{"key":"104_CR6","first-page":"106","volume":"24 (Suppl 2)","author":"TM Cox","year":"2001","unstructured":"Cox TM (2001) Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. J Inherit Metab Dis 24 (Suppl 2):106\u2013121, discussion 187\u2013108","journal-title":"J Inherit Metab Dis"},{"key":"104_CR7","volume-title":"MacSween's pathology of the liver","author":"JM Crawford","year":"2006","unstructured":"Crawford JM (2006) Basic mechanisms in hepatopathology. In: Burt AD, Portmann BC, Ferrell LD (eds) MacSween's pathology of the liver, 5th edn. Churchill Livingstone Elsevier, Philadelphia","edition":"5"},{"key":"104_CR8","doi-asserted-by":"publisher","first-page":"1182","DOI":"10.1172\/JCI110363","volume":"68","author":"I Gery","year":"1981","unstructured":"Gery I, Zigler JS Jr, Brady RO, Barranger JA (1981) Selective effects of glucocerebroside (Gaucher's storage material) on macrophage cultures. J Clin Invest 68:1182\u20131189","journal-title":"J Clin Invest"},{"key":"104_CR9","volume-title":"The online metabolic and molecular bases of inherited disease","author":"GA Grabowski","year":"2006","unstructured":"Grabowski GA, Beutler E (2006) Chapter 146: Gaucher disease. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE (eds) The online metabolic and molecular bases of inherited disease. McGraw-Hill, New York, Chapter 146"},{"key":"104_CR10","doi-asserted-by":"publisher","first-page":"733","DOI":"10.3346\/jkms.2006.21.4.733","volume":"21","author":"YB Hong","year":"2006","unstructured":"Hong YB, Kim EY, Jung SC (2006) Upregulation of proinflammatory cytokines in the fetal brain of the Gaucher mouse. J Korean Med Sci 21:733\u2013738","journal-title":"J Korean Med Sci"},{"key":"104_CR11","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1002\/humu.20676","volume":"29","author":"KS Hruska","year":"2008","unstructured":"Hruska KS, LaMarca ME, Scott CR, Sidransky E (2008) Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 29:567\u2013583","journal-title":"Hum Mutat"},{"key":"104_CR12","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1007\/s100249900026","volume":"1","author":"GP Jevon","year":"1998","unstructured":"Jevon GP, Dimmick JE (1998) Histopathologic approach to metabolic liver disease: Part 1. Pediatr Dev Pathol 1:179\u2013199","journal-title":"Pediatr Dev Pathol"},{"key":"104_CR13","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/S0925-4439(96)00056-7","volume":"1317","author":"H Michelakakis","year":"1996","unstructured":"Michelakakis H, Spanou C, Kondyli A, Dimitriou E, Van Weely S, Hollak CE et al (1996) Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease. Biochim Biophys Acta 1317:219\u2013222","journal-title":"Biochim Biophys Acta"},{"key":"104_CR14","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1002\/ajmg.a.20117","volume":"120A","author":"C Mignot","year":"2003","unstructured":"Mignot C, Gelot A, Bessieres B, Daffos F, Voyer M, Menez F et al (2003) Perinatal-lethal Gaucher disease. Am J Med Genet A 120A:338\u2013344","journal-title":"Am J Med Genet A"},{"key":"104_CR15","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/j.braindev.2005.04.005","volume":"28","author":"C Mignot","year":"2006","unstructured":"Mignot C, Doummar D, Maire I, De Villemeur TB (2006) Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev 28:39\u201348","journal-title":"Brain Dev"},{"key":"104_CR16","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1016\/S1096-7192(02)00117-8","volume":"76","author":"E Orvisky","year":"2002","unstructured":"Orvisky E, Park JK, LaMarca ME, Ginns EI, Martin BM, Tayebi N et al (2002) Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. Mol Genet Metab 76:262\u2013270","journal-title":"Mol Genet Metab"},{"key":"104_CR17","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1038\/sj.jp.7211262","volume":"25","author":"P Roth","year":"2005","unstructured":"Roth P, Sklower Brooks S, Potaznik D, Cooma R, Sahdev S (2005) Neonatal Gaucher disease presenting as persistent thrombocytopenia. J Perinatol 25:356\u2013358","journal-title":"J Perinatol"},{"key":"104_CR18","doi-asserted-by":"publisher","first-page":"1190","DOI":"10.1016\/j.arcped.2009.04.012","volume":"16","author":"IV Schwartz","year":"2009","unstructured":"Schwartz IV, Krug B, Picon PD (2009) Commentaire de l'article \"Cholestase neonatale revelatrice d'un phenotype intermediaire d'une maladie de Gaucher type 2\". Arch Pediatr 16:1190\u20131191","journal-title":"Arch Pediatr"},{"key":"104_CR19","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/S0065-3101(24)00049-5","volume":"44","author":"E Sidransky","year":"1997","unstructured":"Sidransky E (1997) New perspectives in type 2 Gaucher disease. Adv Pediatr 44:73\u2013107","journal-title":"Adv Pediatr"},{"key":"104_CR20","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1016\/j.ymgme.2004.08.015","volume":"83","author":"E Sidransky","year":"2004","unstructured":"Sidransky E (2004) Gaucher disease: complexity in a \"simple\" disorder. Mol Genet Metab 83:6\u201315","journal-title":"Mol Genet Metab"},{"key":"104_CR21","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1080\/15513810701563751","volume":"26","author":"GS Spear","year":"2007","unstructured":"Spear GS, Beutler E, Hungs M (2007) Congenital Gaucher disease with nonimmune hydrops\/erythroblastosis, infantile arterial calcification, and neonatal hepatitis\/fibrosis. Clinicopathologic report with enzymatic and genetic analysis. Fetal Pediatr Pathol 26:153\u2013168","journal-title":"Fetal Pediatr Pathol"},{"key":"104_CR22","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1086\/367850","volume":"72","author":"N Tayebi","year":"2003","unstructured":"Tayebi N, Stubblefield BK, Park JK, Orvisky E, Walker JM, LaMarca ME et al (2003) Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am J Hum Genet 72:519\u2013534","journal-title":"Am J Hum Genet"}],"container-title":["JIMD Reports","JIMD Reports - Case and Research Reports, 2012\/2"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2011_104","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,15]],"date-time":"2024-04-15T14:17:23Z","timestamp":1713190643000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2011_104"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"ISBN":["9783642280955","9783642280962"],"references-count":22,"URL":"https:\/\/doi.org\/10.1007\/8904_2011_104","relation":{"is-part-of":[{"id-type":"doi","id":"https:\/\/doi.org\/10.1007\/978-3-642-28096-2","asserted-by":"object"}]},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"value":"2192-8304","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011]]}}}