{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T03:42:57Z","timestamp":1792035777118,"version":"4.4.0"},"reference-count":39,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,4,12]],"date-time":"2020-04-12T00:00:00Z","timestamp":1586649600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,4,12]],"date-time":"2020-04-12T00:00:00Z","timestamp":1586649600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Res"],"published-print":{"date-parts":[[2021,1]]},"DOI":"10.1038\/s41390-020-0888-4","type":"journal-article","created":{"date-parts":[[2020,4,14]],"date-time":"2020-04-14T16:02:59Z","timestamp":1586880179000},"page":"238-245","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders"],"prefix":"10.1038","volume":"89","author":[{"given":"Yi","family":"Dong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shishu","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huanwei","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunya","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,4,12]]},"reference":[{"key":"888_CR1","doi-asserted-by":"crossref","first-page":"k1612","DOI":"10.1136\/bmj.k1612","volume":"361","author":"S Taylor-Phillips","year":"2018","unstructured":"Taylor-Phillips, S. et al. Association between use of systematic reviews and national policy recommendations on screening newborn babies for rare diseases: systematic review and meta-analysis. BMJ 361, k1612 (2018).","journal-title":"BMJ"},{"key":"888_CR2","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1097\/MPG.0b013e3181b47b49","volume":"50","author":"RJ Sokol","year":"2010","unstructured":"Sokol, R. J. Reloading against rare liver diseases. J. Pediatr. Gastroenterol. Nutr. 50, 9\u201310 (2010).","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"888_CR3","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1534\/genetics.117.203067","volume":"207","author":"MF Wangler","year":"2017","unstructured":"Wangler, M. F. et al. Model organisms facilitate rare disease diagnosis and therapeutic research. Genetics 207, 9\u201327 (2017).","journal-title":"Genetics"},{"key":"888_CR4","doi-asserted-by":"publisher","first-page":"1742","DOI":"10.1111\/apa.13842","volume":"106","author":"A N\u00e9meth","year":"2017","unstructured":"N\u00e9meth, A. The coming of age of a young subspecialty: paediatric hepatology. Acta Paediatr. 106, 1742\u20131746 (2017).","journal-title":"Acta Paediatr."},{"key":"888_CR5","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1001\/jamapediatrics.2017.4012","volume":"172","author":"FT Bourgeois","year":"2018","unstructured":"Bourgeois, F. T. & Hwang, T. J. Improving the study of new medicines for children with rare diseases. JAMA Pediatr. 172, 7\u20139 (2018).","journal-title":"JAMA Pediatr."},{"key":"888_CR6","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1136\/archdischild-2015-309580","volume":"102","author":"A Dhawan","year":"2017","unstructured":"Dhawan, A., Samyn, M. & Joshi, D. Young adults with paediatric liver disease: future challenges. Arch. Dis. Child. 102, 8\u20139 (2017).","journal-title":"Arch. Dis. Child."},{"key":"888_CR7","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1038\/nrg.2017.116","volume":"19","author":"CF Wright","year":"2018","unstructured":"Wright, C. F., FitzPatrick, D. R. & Firth, H. V. Paediatric genomics: diagnosing rare disease in children. Nat. Rev. Genet. 19, 253\u2013268 (2018).","journal-title":"Nat. Rev. Genet."},{"key":"888_CR8","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1002\/lt.24964","volume":"24","author":"E Nicastro","year":"2018","unstructured":"Nicastro, E. & D\u2019Antiga, L. Next generation sequencing in pediatric hepatology and liver transplantation. Liver Transpl. 24, 282\u2013293 (2018).","journal-title":"Liver Transpl."},{"key":"888_CR9","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1016\/j.jhep.2017.11.004","volume":"68","author":"DEJ Jones","year":"2018","unstructured":"Jones, D. E. J., Sturm, E. & Lohse, A. W. Access to care in rare liver diseases: new challenges and new opportunities. J. Hepatol. 68, 577\u2013585 (2018).","journal-title":"J. Hepatol."},{"key":"888_CR10","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1002\/hep.29672","volume":"68","author":"KB Hooks","year":"2018","unstructured":"Hooks, K. B. et al. New insights into diagnosis and therapeutic options for proliferative hepatoblastoma. Hepatology 68, 89\u2013102 (2018).","journal-title":"Hepatology"},{"key":"888_CR11","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1016\/j.cld.2018.06.001","volume":"22","author":"E Mitchell","year":"2018","unstructured":"Mitchell, E., Gilbert, M. & Loomes, K. M. Alagille syndrome. Clin. Liver Dis. 22, 625\u2013641 (2018).","journal-title":"Clin. Liver Dis."},{"key":"888_CR12","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1080\/10408363.2018.1428526","volume":"55","author":"KH Wagner","year":"2018","unstructured":"Wagner, K. H. et al. Diagnostic criteria and contributors to Gilbert\u2019s syndrome. Crit. Rev. Clin. Lab. Sci. 55, 129\u2013139 (2018).","journal-title":"Crit. Rev. Clin. Lab. Sci."},{"key":"888_CR13","doi-asserted-by":"publisher","first-page":"201","DOI":"10.2174\/1871530318666171213153130","volume":"18","author":"A Ebrahimi","year":"2018","unstructured":"Ebrahimi, A. & Rahim, F. Crigler-Najjar syndrome: current perspectives and the application of clinical genetics. Endocr. Metab. Immune Disord. Drug Targets 18, 201\u2013211 (2018).","journal-title":"Endocr. Metab. Immune Disord. Drug Targets"},{"key":"888_CR14","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.ymgmr.2018.08.002","volume":"17","author":"SC Chong","year":"2018","unstructured":"Chong, S. C. et al. Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong. Mol. Genet. Metab. Rep. 17, 3\u20138 (2018).","journal-title":"Mol. Genet. Metab. Rep."},{"key":"888_CR15","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1016\/j.cld.2018.06.003","volume":"22","author":"LN Bull","year":"2018","unstructured":"Bull, L. N. & Thompson, R. J. Progressive familial intrahepatic cholestasis. Clin. Liver Dis. 22, 657\u2013669 (2018).","journal-title":"Clin. Liver Dis."},{"key":"888_CR16","doi-asserted-by":"publisher","first-page":"161.e1","DOI":"10.1016\/j.jpeds.2017.12.058","volume":"196","author":"T Togawa","year":"2018","unstructured":"Togawa, T. et al. Clinical, pathologic, and genetic features of neonatal Dubin-Johnson syndrome: a multicenter study in Japan. J. Pediatr. 196, 161.e1\u2013167.e1 (2018).","journal-title":"J. Pediatr."},{"key":"888_CR17","doi-asserted-by":"publisher","first-page":"e452","DOI":"10.3928\/19382359-20181022-02","volume":"47","author":"L Mataya","year":"2018","unstructured":"Mataya, L., Patel, N. & Azzam, R. K. Autoimmune liver diseases in children. Pediatr. Ann. 47, e452\u2013e457 (2018).","journal-title":"Pediatr. Ann."},{"key":"888_CR18","first-page":"155","volume":"13","author":"S Hashemian","year":"2019","unstructured":"Hashemian, S. et al. Niemann-Pick diseases: the largest Iranian cohort with genetic analysis. Iran. J. Child Neurol. 13, 155\u2013162 (2019).","journal-title":"Iran. J. Child Neurol."},{"key":"888_CR19","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1016\/j.bcmd.2017.08.016","volume":"68","author":"A Zimran","year":"2018","unstructured":"Zimran, A. & Szer, J. Recent advances and future challenges in Gaucher disease. Blood Cells Mol. Dis. 68, 9\u201313 (2018).","journal-title":"Blood Cells Mol. Dis."},{"key":"888_CR20","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.jaut.2018.10.008","volume":"95","author":"B Terziroli Beretta-Piccoli","year":"2018","unstructured":"Terziroli Beretta-Piccoli, B., Vergani, D. & Mieli-Vergani, G. Autoimmune sclerosing cholangitis: evidence and open questions. J. Autoimmun. 95, 15\u201325 (2018).","journal-title":"J. Autoimmun."},{"key":"888_CR21","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1007\/978-1-4939-7471-9_19","volume":"1706","author":"GS Gerhard","year":"2018","unstructured":"Gerhard, G. S., Paynton, B. V. & DiStefano, J. K. Identification of genes for hereditary hemochromatosis. Methods Mol. Biol. 1706, 353\u2013365 (2018).","journal-title":"Methods Mol. Biol."},{"key":"888_CR22","doi-asserted-by":"publisher","first-page":"2413","DOI":"10.1002\/hep.30132","volume":"68","author":"V Hern\u00e1ndez-Gea","year":"2018","unstructured":"Hern\u00e1ndez-Gea, V. et al. Idiopathic portal hypertension. Hepatology 68, 2413\u20132423 (2018).","journal-title":"Hepatology"},{"key":"888_CR23","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1111\/jgh.13996","volume":"33","author":"T Iida","year":"2018","unstructured":"Iida, T., Yamano, H. & Nakase, H. Systemic amyloidosis with gastrointestinal involvement: diagnosis from endoscopic and histological views. J. Gastroenterol. Hepatol. 33, 583\u2013590 (2018).","journal-title":"J. Gastroenterol. Hepatol."},{"key":"888_CR24","doi-asserted-by":"publisher","first-page":"R297","DOI":"10.1530\/EJE-18-0383","volume":"179","author":"C Peters","year":"2018","unstructured":"Peters, C., van Trotsenburg, A. S. P. & Schoenmakers, N. Diagnosis of endocrine disease: congenital hypothyroidism: update and perspectives. Eur. J. Endocrinol. 179, R297\u2013R317 (2018).","journal-title":"Eur. J. Endocrinol."},{"key":"888_CR25","doi-asserted-by":"publisher","first-page":"339","DOI":"10.21037\/atm.2018.07.35","volume":"6","author":"O Ciepiela","year":"2018","unstructured":"Ciepiela, O. Old and new insights into the diagnosis of hereditary spherocytosis. Ann. Transl. Med. 6, 339 (2018).","journal-title":"Ann. Transl. Med."},{"key":"888_CR26","doi-asserted-by":"publisher","first-page":"171","DOI":"10.2147\/JBM.S176144","volume":"9","author":"JC Jaime-P\u00e9rez","year":"2018","unstructured":"Jaime-P\u00e9rez, J. C. et al. Evans syndrome: clinical perspectives, biological insights and treatment modalities. J. Blood Med. 9, 171\u2013184 (2018).","journal-title":"J. Blood Med."},{"key":"888_CR27","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1007\/s40291-018-0368-2","volume":"23","author":"V Bezzerri","year":"2019","unstructured":"Bezzerri, V. & Cipolli, M. Shwachman-Diamond syndrome: molecular mechanisms and current perspectives. Mol. Diagn. Ther. 23, 281\u2013290 (2019).","journal-title":"Mol. Diagn. Ther."},{"key":"888_CR28","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1111\/nyas.13011","volume":"1417","author":"R Bacchetta","year":"2018","unstructured":"Bacchetta, R., Barzaghi, F. & Roncarolo, M. G. From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation. Ann. NY Acad. Sci. 1417, 5\u201322 (2018).","journal-title":"Ann. NY Acad. Sci."},{"key":"888_CR29","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1016\/S0009-8981(01)00741-0","volume":"316","author":"M Kimura","year":"2002","unstructured":"Kimura, M. et al. A sensitive and simplified method to analyze free fatty acids in children with mitochondrial beta oxidation disorders using gas chromatography\/mass spectrometry and dried blood spots. Clin. Chim. Acta 316, 117\u2013121. (2002).","journal-title":"Clin. Chim. Acta"},{"key":"888_CR30","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/S0378-4347(99)00208-X","volume":"731","author":"M Kimura","year":"1999","unstructured":"Kimura, M. & Yamaguchi, S. Screening for fatty acid beta oxidation disorders. Acylglycine analysis by electron impact ionization gas chromatography-mass spectrometry. J. Chromatogr. B Biomed. Sci. Appl. 731, 105\u2013110. (1999).","journal-title":"J. Chromatogr. B Biomed. Sci. Appl."},{"key":"888_CR31","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405\u2013424 (2015).","journal-title":"Genet. Med."},{"key":"888_CR32","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1586\/17474124.2016.1129274","volume":"10","author":"C Della Corte","year":"2016","unstructured":"Della Corte, C. et al. Pediatric liver diseases: current challenges and future perspectives. Expert Rev. Gastroenterol. Hepatol. 10, 255\u2013265 (2016).","journal-title":"Expert Rev. Gastroenterol. Hepatol."},{"key":"888_CR33","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1152-z","volume":"14","author":"LHP Bernts","year":"2019","unstructured":"Bernts, L. H. P. et al. Position statement on access to care in rare liver diseases: advancements of the European reference network (ERN) RARE-LIVER. Orphanet J. Rare Dis. 14, 169 (2019).","journal-title":"Orphanet J. Rare Dis."},{"key":"888_CR34","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1016\/j.jhep.2019.06.009","volume":"71","author":"S Zhu","year":"2019","unstructured":"Zhu, S., Dong, Y., Wang, L., Liu, W. & Zhao, P. Early initiation of antiviral therapy contributes to a rapid and significant loss of serum HBsAg in infantile-onset hepatitis B. J. Hepatol. 71, 871\u2013875 (2019).","journal-title":"J. Hepatol."},{"key":"888_CR35","first-page":"542","volume":"15","author":"N Karadag","year":"2017","unstructured":"Karadag, N. et al. Effect of copper staining in Wilson disease: a liver explant study. Exp. Clin. Transpl. 15, 542\u2013546 (2017).","journal-title":"Exp. Clin. Transpl."},{"key":"888_CR36","doi-asserted-by":"publisher","first-page":"59","DOI":"10.33176\/AACB-18-00014","volume":"40","author":"I Mohr","year":"2019","unstructured":"Mohr, I. & Weiss, K. H. Biochemical markers for the diagnosis and monitoring of Wilson disease. Clin. Biochem. Rev. 40, 59\u201377 (2019).","journal-title":"Clin. Biochem. Rev."},{"key":"888_CR37","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1038\/s10038-018-0431-1","volume":"63","author":"K Imagawa","year":"2018","unstructured":"Imagawa, K. et al. Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis. J. Hum. Genet. 63, 569\u2013577 (2018).","journal-title":"J. Hum. Genet."},{"key":"888_CR38","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1038\/s41586-019-1457-z","volume":"572","author":"AE Locke","year":"2019","unstructured":"Locke, A. E. et al. Exome sequencing of Finnish isolates enhances rare-variant association power. Nature 572, 323\u2013328 (2019).","journal-title":"Nature"},{"key":"888_CR39","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1002\/humu.22987","volume":"37","author":"A Niroula","year":"2016","unstructured":"Niroula, A. & Vihinen, M. Variation interpretation predictors: principles, types, performance, and choice. Hum. Mutat. 37, 579\u2013597 (2016).","journal-title":"Hum. Mutat."}],"container-title":["Pediatric Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s41390-020-0888-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41390-020-0888-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41390-020-0888-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T22:47:38Z","timestamp":1696027658000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41390-020-0888-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,12]]},"references-count":39,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["888"],"URL":"https:\/\/doi.org\/10.1038\/s41390-020-0888-4","relation":{},"ISSN":["0031-3998","1530-0447"],"issn-type":[{"value":"0031-3998","type":"print"},{"value":"1530-0447","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,12]]},"assertion":[{"value":"4 March 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 March 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 April 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Informed consent was obtained at admission from parents or guardians of all included patients.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Patient consent"}}]}}