{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:55:56Z","timestamp":1791082556710,"version":"4.1.0"},"reference-count":100,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T00:00:00Z","timestamp":1367366400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinics in Liver Disease"],"published-print":{"date-parts":[[2013,5]]},"DOI":"10.1016\/j.cld.2012.12.004","type":"journal-article","created":{"date-parts":[[2013,3,27]],"date-time":"2013-03-27T10:17:31Z","timestamp":1364379451000},"page":"279-300","source":"Crossref","is-referenced-by-count":37,"title":["Alagille Syndrome and Other Hereditary Causes of Cholestasis"],"prefix":"10.1016","volume":"17","author":[{"given":"Jane L.","family":"Hartley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Gissen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deirdre A.","family":"Kelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"9197","key":"10.1016\/j.cld.2012.12.004_bib1","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/S0140-6736(99)03492-3","article-title":"The frequency and outcome of biliary atresia in the UK and Ireland","volume":"355","author":"McKiernan","year":"2000","journal-title":"Lancet"},{"key":"10.1016\/j.cld.2012.12.004_bib2","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1136\/jmg.40.12.891","article-title":"Consequences of JAG1 mutations","volume":"40","author":"Kamath","year":"2003","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.cld.2012.12.004_bib3","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1002\/hep.510290331","article-title":"Features of Alagille syndrome in 92 patients: frequency and relation to prognosis","volume":"29","author":"Emerick","year":"1999","journal-title":"Hepatology"},{"key":"10.1016\/j.cld.2012.12.004_bib4","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1161\/01.CIR.0000121361.01862.A4","article-title":"Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality","volume":"109","author":"Kamath","year":"2004","journal-title":"Circulation"},{"issue":"3","key":"10.1016\/j.cld.2012.12.004_bib5","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1038\/ng0797-243","article-title":"Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1","volume":"16","author":"Li","year":"1997","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.cld.2012.12.004_bib6","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1086\/505332","article-title":"NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway","volume":"79","author":"McDaniell","year":"2006","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.cld.2012.12.004_bib7","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1002\/ajmg.10610","article-title":"Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance","volume":"112","author":"Kamath","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.cld.2012.12.004_bib8","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S0022-3476(87)80153-1","article-title":"Syndromic paucity of intralobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases","volume":"110","author":"Alagille","year":"1987","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.cld.2012.12.004_bib9","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1002\/(SICI)1096-8628(19990507)84:1<56::AID-AJMG11>3.0.CO;2-W","article-title":"Jagged 1 mutations in patients ascertained with isolated congenital heart defects","volume":"84","author":"Krantz","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.cld.2012.12.004_bib10","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1097\/MPG.0b013e3181df5fd8","article-title":"Effect of Kasai procedure on hepatic outcome in Alagille syndrome","volume":"51","author":"Kaye","year":"2010","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.cld.2012.12.004_bib11","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1136\/gut.49.3.431","article-title":"Outcome of liver disease in children with Alagille syndrome: a study of 163 patients","volume":"49","author":"Lykavieris","year":"2001","journal-title":"Gut"},{"key":"10.1016\/j.cld.2012.12.004_bib12","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1097\/01.mpg.0000179759.60048.c4","article-title":"Hepatocellular carcinoma in children with Alagille syndrome","volume":"41","author":"Bhadri","year":"2005","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.cld.2012.12.004_bib13","doi-asserted-by":"crossref","first-page":"2567","DOI":"10.1161\/01.CIR.0000037221.45902.69","article-title":"Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with JAG1 mutation and\/or Alagille syndrome","volume":"106","author":"McElhinney","year":"2002","journal-title":"Circulation"},{"key":"10.1016\/j.cld.2012.12.004_bib14","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1007\/s00247-001-0599-x","article-title":"Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients","volume":"32","author":"Sanderson","year":"2002","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.cld.2012.12.004_bib15","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1002\/ajmg.10608","article-title":"Craniosynostosis in Alagille syndrome","volume":"112","author":"Kamath","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.cld.2012.12.004_bib16","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1007\/s00256-003-0651-z","article-title":"Alagille syndrome: case report with bilateral radio-ulnar synostosis and a literature review","volume":"32","author":"Ryan","year":"2003","journal-title":"Skeletal Radiol"},{"key":"10.1016\/j.cld.2012.12.004_bib17","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1097\/MPG.0b013e3181cb9629","article-title":"Pathogenic lower extremity fractures in children with Alagille syndrome","volume":"51","author":"Bales","year":"2010","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"issue":"2","key":"10.1016\/j.cld.2012.12.004_bib18","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/S0161-6420(99)90072-6","article-title":"Ocular abnormalities in Alagille syndrome","volume":"106","author":"Hingorani","year":"1999","journal-title":"Ophthalmology"},{"issue":"1","key":"10.1016\/j.cld.2012.12.004_bib19","first-page":"11","article-title":"The Philadelphia story: the 22q11.2 deletion: report on 250 patients","volume":"10","author":"McDonald-McGinn","year":"1999","journal-title":"Genet Couns"},{"key":"10.1016\/j.cld.2012.12.004_bib20","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1136\/adc.74.3.232","article-title":"Alagille\u2019s syndrome associated with cystic renal disease","volume":"74","author":"Martin","year":"1996","journal-title":"Arch Dis Child"},{"issue":"1","key":"10.1016\/j.cld.2012.12.004_bib21","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1097\/00005176-200501000-00014","article-title":"Deficits in size-adjusted bone mass in children with Alagille syndrome","volume":"40","author":"Olsen","year":"2005","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.cld.2012.12.004_bib22","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1097\/00005176-200210000-00007","article-title":"Rethinking growth failure in Alagille syndrome: the role of dietary intake and steatorrhea","volume":"35","author":"Rovner","year":"2002","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"issue":"3","key":"10.1016\/j.cld.2012.12.004_bib23","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1097\/01.mpg.0000221895.51748.44","article-title":"Visual loss and idiopathic intracranial hypertension in children with Alagille syndrome","volume":"43","author":"Narula","year":"2006","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.cld.2012.12.004_bib24","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1007\/s10024001-0102-6","article-title":"Proliferation to paucity: evolution of bile duct abnormalities in a case of Alagille syndrome","volume":"4","author":"Deutsch","year":"2001","journal-title":"Pediatr Dev Pathol"},{"issue":"5","key":"10.1016\/j.cld.2012.12.004_bib25","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1097\/00005176-199705000-00016","article-title":"Bile acid therapy in pediatric hepatobiliary disease: the role of ursodeoxycholic acid","volume":"24","author":"Balistreri","year":"1997","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"issue":"4","key":"10.1016\/j.cld.2012.12.004_bib26","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1097\/00005176-199910000-00013","article-title":"Use of rifampin for severe pruritus in children with chronic cholestasis","volume":"29","author":"Yerushalmi","year":"1999","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"issue":"11","key":"10.1016\/j.cld.2012.12.004_bib27","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1007\/BF02282894","article-title":"Ondansetron for pruritus in child with chronic cholestasis","volume":"155","author":"Trioche","year":"1996","journal-title":"Eur J Pediatr"},{"issue":"6","key":"10.1016\/j.cld.2012.12.004_bib28","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1097\/MPG.0b013e3181eb5ac0","article-title":"Use of oral naltrexone for severe pruritus due to cholestatic liver disease in children","volume":"51","author":"Zellos","year":"2010","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"issue":"2","key":"10.1016\/j.cld.2012.12.004_bib29","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1097\/00005176-200302000-00029","article-title":"Novel surgical and pharmacological approaches to chronic cholestasis in children: partial external biliary diversion for intractable pruritus and xanthomas in Alagille syndrome","volume":"36","author":"Neimark","year":"2003","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"issue":"3","key":"10.1016\/j.cld.2012.12.004_bib30","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1136\/gut.2005.067389","article-title":"Adaptive regulation of the ileal apical sodium dependent bile acid transporter (ASBT) in patients with obstructive cholestasis","volume":"55","author":"Hruz","year":"2006","journal-title":"Gut"},{"issue":"2","key":"10.1016\/j.cld.2012.12.004_bib31","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1053\/j.gastro.2007.05.015","article-title":"Functional variants of the central bile acid sensor FXR identified in intrahepatic cholestasis of pregnancy","volume":"133","author":"Van Mil","year":"2007","journal-title":"Gastroenterology"},{"key":"10.1016\/j.cld.2012.12.004_bib32","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1038\/ng0398-219","article-title":"A\u00a0gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis","volume":"18","author":"Bull","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.cld.2012.12.004_bib33","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1002\/hep.21950","article-title":"ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity","volume":"47","author":"Paulusma","year":"2008","journal-title":"Hepatology"},{"key":"10.1016\/j.cld.2012.12.004_bib34","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/3034","article-title":"A\u00a0gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis","volume":"20","author":"Strautnieks","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.cld.2012.12.004_bib35","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1053\/j.gastro.2004.04.065","article-title":"Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11","volume":"127","author":"van Mil","year":"2004","journal-title":"Gastroenterology"},{"issue":"4","key":"10.1016\/j.cld.2012.12.004_bib36","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1002\/hep.510230435","article-title":"Defect of multidrug-resistance 3\u00a0gene expression in a subtype of progressive familial intrahepatic cholestasis","volume":"23","author":"Deleuze","year":"1996","journal-title":"Hepatology"},{"issue":"10","key":"10.1016\/j.cld.2012.12.004_bib37","doi-asserted-by":"crossref","first-page":"2562","DOI":"10.1172\/JCI119799","article-title":"Hepatic secretion of phospholipid vesicles in the mouse critically depends on mdr2 or MDR3 P-glycoprotein expression. Visualization by electron microscopy","volume":"100","author":"Crawford","year":"1997","journal-title":"J\u00a0Clin Invest"},{"issue":"5","key":"10.1016\/j.cld.2012.12.004_bib38","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1053\/j.gastro.2011.07.042","article-title":"Complementary functions of the flippase ATP8B1 and the floppase ABCB4 in maintaining canalicular membrane integrity","volume":"141","author":"Groen","year":"2011","journal-title":"Gastroenterology"},{"issue":"17","key":"10.1016\/j.cld.2012.12.004_bib39","doi-asserted-by":"crossref","first-page":"2049","DOI":"10.3748\/wjg.15.2049","article-title":"Intrahepatic cholestasis of pregnancy","volume":"15","author":"Geenes","year":"2009","journal-title":"World J Gastroenterol"},{"issue":"5","key":"10.1016\/j.cld.2012.12.004_bib40","doi-asserted-by":"crossref","first-page":"1645","DOI":"10.1002\/hep.23539","article-title":"ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history","volume":"51","author":"Davit-Spraul","year":"2010","journal-title":"Hepatology"},{"key":"10.1016\/j.cld.2012.12.004_bib41","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1055\/s-2001-19038","article-title":"BSEP: function and role in progressive familial intrahepatic cholestasis","volume":"21","author":"Thompson","year":"2001","journal-title":"Semin Liver Dis"},{"issue":"2","key":"10.1016\/j.cld.2012.12.004_bib42","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1002\/hep.21287","article-title":"Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency","volume":"44","author":"Knisely","year":"2006","journal-title":"Hepatology"},{"key":"10.1016\/j.cld.2012.12.004_bib43","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1055\/s-2001-19033","article-title":"Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases","volume":"21","author":"Jacquemin","year":"2001","journal-title":"Semin Liver Dis"},{"key":"10.1016\/j.cld.2012.12.004_bib44","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1007\/s100240050016","article-title":"Progressive familial intrahepatic cholestasis: a personal perspective","volume":"3","author":"Knisely","year":"2000","journal-title":"Pediatr Dev Pathol"},{"issue":"7","key":"10.1016\/j.cld.2012.12.004_bib45","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1002\/humu.21261","article-title":"Design and validation of a metabolic disorder resequencing microarray (BRUM1)","volume":"31","author":"Bruce","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.cld.2012.12.004_bib46","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/S0168-8278(03)00286-1","article-title":"Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation","volume":"39","author":"Lykavieris","year":"2003","journal-title":"J\u00a0Hepatol"},{"issue":"2","key":"10.1016\/j.cld.2012.12.004_bib47","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1002\/hep.23083","article-title":"De novo bile salt transporter antibodies as a possible cause of recurrent graft failure after liver transplantation: a novel mechanism of cholestasis","volume":"50","author":"Keitel","year":"2009","journal-title":"Hepatology"},{"key":"10.1016\/j.cld.2012.12.004_bib48","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1146\/annurev.biochem.72.121801.161712","article-title":"The enzymes, regulation, and genetics of bile acid synthesis","volume":"72","author":"Russell","year":"2003","journal-title":"Annu Rev Biochem"},{"issue":"3","key":"10.1016\/j.cld.2012.12.004_bib49","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1007\/s10545-010-9259-3","article-title":"Disorders of bile acid synthesis","volume":"34","author":"Clayton","year":"2011","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"6","key":"10.1016\/j.cld.2012.12.004_bib50","doi-asserted-by":"crossref","first-page":"2034","DOI":"10.1172\/JCI114939","article-title":"Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase\/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism","volume":"86","author":"Buchmann","year":"1990","journal-title":"J\u00a0Clin Invest"},{"issue":"5","key":"10.1016\/j.cld.2012.12.004_bib51","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1136\/adc.80.5.463","article-title":"An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets","volume":"80","author":"Akobeng","year":"1999","journal-title":"Arch Dis Child"},{"issue":"6","key":"10.1016\/j.cld.2012.12.004_bib52","doi-asserted-by":"crossref","first-page":"2148","DOI":"10.1172\/JCI113837","article-title":"Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis","volume":"82","author":"Setchell","year":"1988","journal-title":"J\u00a0Clin Invest"},{"issue":"4 Pt 1","key":"10.1016\/j.cld.2012.12.004_bib53","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1203\/00006450-199504000-00007","article-title":"Familial giant cell hepatitis with low\u00a0bile acid concentrations and increased urinary excretion of specific bile alcohols: a new inborn error of bile acid synthesis?","volume":"37","author":"Clayton","year":"1995","journal-title":"Pediatr Res"},{"issue":"3","key":"10.1016\/j.cld.2012.12.004_bib54","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/S0022-3476(05)83280-9","article-title":"A\u00a0new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase\/isomerase deficiency","volume":"125","author":"Jacquemin","year":"1994","journal-title":"J\u00a0Pediatr"},{"issue":"5500","key":"10.1016\/j.cld.2012.12.004_bib55","doi-asserted-by":"crossref","first-page":"2298","DOI":"10.1126\/science.290.5500.2298","article-title":"Identification of HE1 as the second gene of Niemann-Pick C disease","volume":"290","author":"Naureckiene","year":"2000","journal-title":"Science"},{"issue":"7","key":"10.1016\/j.cld.2012.12.004_bib56","doi-asserted-by":"crossref","first-page":"3411","DOI":"10.1016\/S0021-9258(18)69086-6","article-title":"Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol","volume":"263","author":"Sokol","year":"1988","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.cld.2012.12.004_bib57","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-5-16","article-title":"Niemann-Pick disease type C","volume":"5","author":"Vanier","year":"2010","journal-title":"Orphanet J Rare Dis"},{"issue":"1\u20132","key":"10.1016\/j.cld.2012.12.004_bib58","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1006\/mgme.2000.3061","article-title":"The structure and function of the Niemann-Pick C1 protein","volume":"71","author":"Ioannou","year":"2000","journal-title":"Mol Genet Metab"},{"issue":"5","key":"10.1016\/j.cld.2012.12.004_bib59","doi-asserted-by":"crossref","first-page":"2518","DOI":"10.1073\/pnas.0530027100","article-title":"The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels","volume":"100","author":"Ko","year":"2003","journal-title":"Proc Natl Acad Sci U\u00a0S\u00a0A"},{"key":"10.1016\/j.cld.2012.12.004_bib60","doi-asserted-by":"crossref","DOI":"10.1007\/s10545-010-9060-3","article-title":"Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe \u2018graft versus substrate\u2019 effect","author":"Bonney","year":"2010","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"11","key":"10.1016\/j.cld.2012.12.004_bib61","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1038\/nm.1876","article-title":"Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium","volume":"14","author":"Lloyd-Evans","year":"2008","journal-title":"Nat Med"},{"issue":"3","key":"10.1016\/j.cld.2012.12.004_bib62","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1002\/ajmg.a.32642","article-title":"The clinical spectrum of fetal Niemann-Pick type C","volume":"149A","author":"Spiegel","year":"2009","journal-title":"Am J Med Genet A"},{"issue":"2","key":"10.1016\/j.cld.2012.12.004_bib63","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/S0022-3476(05)81695-6","article-title":"Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease","volume":"123","author":"Kelly","year":"1993","journal-title":"J\u00a0Pediatr"},{"issue":"5","key":"10.1016\/j.cld.2012.12.004_bib64","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1136\/adc.84.5.427","article-title":"Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C","volume":"84","author":"Imrie","year":"2001","journal-title":"Arch Dis Child"},{"issue":"11","key":"10.1016\/j.cld.2012.12.004_bib65","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1002\/ajmg.a.31735","article-title":"The National Niemann-Pick C1 Disease Database: report of clinical features and health problems","volume":"143A","author":"Garver","year":"2007","journal-title":"Am J Med Genet A"},{"issue":"5","key":"10.1016\/j.cld.2012.12.004_bib66","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1007\/s10545-006-0363-3","article-title":"Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A\/B and C","volume":"29","author":"Ries","year":"2006","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"4","key":"10.1016\/j.cld.2012.12.004_bib67","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1016\/0925-4439(91)90069-L","article-title":"Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing","volume":"1096","author":"Vanier","year":"1991","journal-title":"Biochim Biophys Acta"},{"issue":"1\u20132","key":"10.1016\/j.cld.2012.12.004_bib68","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.ymgme.2009.06.008","article-title":"Recommendations on the diagnosis and management of Niemann-Pick disease type C","volume":"98","author":"Wraith","year":"2009","journal-title":"Mol Genet Metab"},{"issue":"3","key":"10.1016\/j.cld.2012.12.004_bib69","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.ymgme.2009.07.003","article-title":"Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study","volume":"98","author":"Pineda","year":"2009","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.cld.2012.12.004_bib70","doi-asserted-by":"crossref","DOI":"10.1007\/s10545-009-1116-x","article-title":"Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK","author":"Hutchin","year":"2009","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"2","key":"10.1016\/j.cld.2012.12.004_bib71","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/9667","article-title":"The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein","volume":"22","author":"Kobayashi","year":"1999","journal-title":"Nat Genet"},{"issue":"4","key":"10.1016\/j.cld.2012.12.004_bib72","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1007\/s10545-006-0250-y","article-title":"Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency","volume":"29","author":"Lee","year":"2006","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"4","key":"10.1016\/j.cld.2012.12.004_bib73","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1111\/j.1872-034X.2009.00594.x","article-title":"Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency","volume":"40","author":"Kimura","year":"2010","journal-title":"Hepatol Res"},{"issue":"3","key":"10.1016\/j.cld.2012.12.004_bib74","doi-asserted-by":"crossref","first-page":"e773","DOI":"10.1542\/peds.2006-1950","article-title":"Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet","volume":"119","author":"Dimmock","year":"2007","journal-title":"Pediatrics"},{"issue":"11","key":"10.1016\/j.cld.2012.12.004_bib75","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1007\/s00431-002-1045-2","article-title":"Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation","volume":"161","author":"Tamamori","year":"2002","journal-title":"Eur J Pediatr"},{"issue":"12","key":"10.1016\/j.cld.2012.12.004_bib76","doi-asserted-by":"crossref","first-page":"1615","DOI":"10.1016\/j.metabol.2005.06.009","article-title":"Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13","volume":"54","author":"Takaya","year":"2005","journal-title":"Metabolism"},{"issue":"4","key":"10.1016\/j.cld.2012.12.004_bib77","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/lt.20131","article-title":"Feasibility of auxiliary partial orthotopic liver transplantation from living donors for patients with adult-onset type II citrullinemia","volume":"10","author":"Yazaki","year":"2004","journal-title":"Liver Transpl"},{"key":"10.1016\/j.cld.2012.12.004_bib78","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1038\/ng1325","article-title":"Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome","volume":"36","author":"Gissen","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.cld.2012.12.004_bib79","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/ng.538","article-title":"Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization","volume":"42","author":"Cullinane","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.cld.2012.12.004_bib80","doi-asserted-by":"crossref","DOI":"10.1002\/humu.22155","article-title":"Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome","author":"Smith","year":"2012","journal-title":"Hum Mutat"},{"issue":"3","key":"10.1016\/j.cld.2012.12.004_bib81","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1097\/MPG.0b013e31817fcb3f","article-title":"Clinical characteristics and VPS33B mutations in patients with ARC syndrome","volume":"48","author":"Jang","year":"2009","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"issue":"4","key":"10.1016\/j.cld.2012.12.004_bib82","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1097\/00019605-200510000-00005","article-title":"Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review","volume":"14","author":"Abu-Sa'da","year":"2005","journal-title":"Clin Dysmorphol"},{"issue":"4","key":"10.1016\/j.cld.2012.12.004_bib83","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1097\/MPH.0b013e3181c3a8d0","article-title":"Agranular platelets as a cardinal feature of ARC syndrome","volume":"32","author":"Kim","year":"2010","journal-title":"J\u00a0Pediatr Hematol Oncol"},{"issue":"232","key":"10.1016\/j.cld.2012.12.004_bib84","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1136\/adc.43.232.646","article-title":"Hereditary recurrent intrahepatic cholestasis from birth","volume":"43","author":"Aagenaes","year":"1968","journal-title":"Arch Dis Child"},{"issue":"4","key":"10.1016\/j.cld.2012.12.004_bib85","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1080\/00365520500335183","article-title":"Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1\/Aagenaes syndrome)","volume":"41","author":"Drivdal","year":"2006","journal-title":"Scand J Gastroenterol"},{"issue":"4","key":"10.1016\/j.cld.2012.12.004_bib86","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1002\/hep.24761","article-title":"Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability","volume":"55","author":"Grosse","year":"2012","journal-title":"Hepatology"},{"key":"10.1016\/j.cld.2012.12.004_bib87","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1097\/00005176-199310000-00016","article-title":"Neonatal sclerosing cholangitis in two siblings: a category of progressive intrahepatic cholestasis","volume":"17","author":"Baker","year":"1993","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"issue":"3","key":"10.1016\/j.cld.2012.12.004_bib88","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1097\/MPG.0b013e3182169433","article-title":"Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency","volume":"53","author":"Paganelli","year":"2011","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"issue":"3","key":"10.1016\/j.cld.2012.12.004_bib89","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1002\/humu.20857","article-title":"A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis software","volume":"30","author":"Zaimidou","year":"2009","journal-title":"Hum Mutat"},{"issue":"Pt 3","key":"10.1016\/j.cld.2012.12.004_bib90","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1111\/j.1469-1809.2008.00431.x","article-title":"Age of SERPINA1 gene PI Z mutation: Swedish and Latvian population analysis","volume":"72","author":"Lace","year":"2008","journal-title":"Ann Hum Genet"},{"issue":"6","key":"10.1016\/j.cld.2012.12.004_bib91","doi-asserted-by":"crossref","first-page":"F456","DOI":"10.1136\/adc.2008.148239","article-title":"Vitamin K deficiency bleeding in cholestatic infants with alpha-1-antitrypsin deficiency","volume":"94","author":"van Hasselt","year":"2009","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"10.1016\/j.cld.2012.12.004_bib92","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1136\/adc.85.1.2","article-title":"Alpha-1 antitrypsin deficiency","volume":"85","author":"Primhak","year":"2001","journal-title":"Arch Dis Child"},{"issue":"4","key":"10.1016\/j.cld.2012.12.004_bib93","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1097\/00005176-200010000-00013","article-title":"North American Indian cirrhosis in children: a review of 30 cases","volume":"31","author":"Drouin","year":"2000","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"issue":"4","key":"10.1016\/j.cld.2012.12.004_bib94","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1016\/0016-5085(81)90487-X","article-title":"Severe familial cholestasis in North American Indian children: a clinical model of microfilament dysfunction?","volume":"81","author":"Weber","year":"1981","journal-title":"Gastroenterology"},{"issue":"8","key":"10.1016\/j.cld.2012.12.004_bib95","doi-asserted-by":"crossref","first-page":"e1002892","DOI":"10.1371\/journal.pgen.1002892","article-title":"NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing","volume":"8","author":"Freed","year":"2012","journal-title":"PLoS Genet"},{"issue":"18","key":"10.1016\/j.cld.2012.12.004_bib96","doi-asserted-by":"crossref","first-page":"3086","DOI":"10.1016\/j.yexcr.2009.08.017","article-title":"Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip\/HIVEP1","volume":"315","author":"Yu","year":"2009","journal-title":"Exp Cell Res"},{"issue":"9","key":"10.1016\/j.cld.2012.12.004_bib97","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.1016\/j.bbadis.2012.04.006","article-title":"Genetics and molecular basis of human peroxisome biogenesis disorders","volume":"1822","author":"Waterham","year":"2012","journal-title":"Biochim Biophys Acta"},{"issue":"2","key":"10.1016\/j.cld.2012.12.004_bib98","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/hep.1840150206","article-title":"Oral bile acid treatment and the patient with Zellweger syndrome","volume":"15","author":"Setchell","year":"1992","journal-title":"Hepatology"},{"key":"10.1016\/j.cld.2012.12.004_bib99","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1146\/annurev.genom.7.080505.115610","article-title":"The ciliopathies: an emerging class of human genetic disorders","volume":"7","author":"Badano","year":"2006","journal-title":"Annu Rev Genomics Hum Genet"},{"issue":"3","key":"10.1016\/j.cld.2012.12.004_bib100","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<311::AID-AJMG12>3.0.CO;2-W","article-title":"Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial","volume":"68","author":"Irons","year":"1997","journal-title":"Am J Med Genet"}],"container-title":["Clinics in Liver Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S108932611200150X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S108932611200150X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,2,12]],"date-time":"2022-02-12T13:47:39Z","timestamp":1644673659000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S108932611200150X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5]]},"references-count":100,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["S108932611200150X"],"URL":"https:\/\/doi.org\/10.1016\/j.cld.2012.12.004","relation":{},"ISSN":["1089-3261"],"issn-type":[{"value":"1089-3261","type":"print"}],"subject":[],"published":{"date-parts":[[2013,5]]}}}