Neonatal Dubin–Johnson syndrome: biochemical parameters, characteristics, and genetic variants study
暂无分享,去创建一个
Ruiqin Zhao | Xiaolei Li | Haiyan Fu | X. Jia | Chunlan Yin | Guigui Li
[1] J. Jia,et al. A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China , 2020, Orphanet Journal of Rare Diseases.
[2] Kwang Yeon Kim,et al. Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome , 2020, BMC Pediatrics.
[3] Y. Chrétien,et al. Genetic contribution of ABCC2 to Dubin‐Johnson syndrome and inherited cholestatic disorders , 2020, Liver international : official journal of the International Association for the Study of the Liver.
[4] Yang Li,et al. Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin–Johnson syndrome in a Chinese gril: A case report , 2019, World journal of clinical cases.
[5] Avantika Gupta,et al. A Case of Dubin-Johnson Syndrome in Pregnancy , 2019, Cureus.
[6] Y. Nan,et al. Mutation analysis of the ABCC2 gene in Chinese patients with Dubin-Johnson syndrome. , 2018, Experimental and therapeutic medicine.
[7] S. Saitoh,et al. Clinical, Pathologic, and Genetic Features of Neonatal Dubin‐Johnson Syndrome: A Multicenter Study in Japan , 2018, The Journal of pediatrics.
[8] S. Saitoh,et al. Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing. , 2016, The Journal of pediatrics.
[9] B. Weinberger,et al. Inherited disorders of bilirubin clearance , 2016, Pediatric Research.
[10] Paul Woodgate,et al. Neonatal jaundice: phototherapy. , 2015, BMJ clinical evidence.
[11] T. Kusaka,et al. Neonatal Dubin–Johnson syndrome: Novel compound heterozygous mutation in the ABCC2 gene , 2014, Pediatrics international : official journal of the Japan Pediatric Society.
[12] D. Tibboel,et al. Ontogeny of Human Hepatic and Intestinal Transporter Gene Expression during Childhood: Age Matters , 2014, Drug Metabolism and Disposition.
[13] E. Poggiogalle,et al. Mutational analysis of ABCC2 gene in two siblings with neonatal‐onset Dubin Johnson syndrome , 2010, Clinical genetics.
[14] M. Marinelli,et al. Age matters , 2009, The European journal of neuroscience.
[15] H. Hsu,et al. Neonatal Dubin-Johnson Syndrome: Long-Term Follow-up and MRP2 Mutations Study , 2006, Pediatric Research.
[16] Mei-Hwei Chang,et al. Developmental expression of canalicular transporter genes in human liver , 2005 .
[17] V. Moyer,et al. Guideline for the Evaluation of Cholestatic Jaundice in Infants: Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition , 2004, Journal of pediatric gastroenterology and nutrition.
[18] Mei-Hwei Chang,et al. Developmental expression of canalicular transporter genes in human liver. , 2004, Journal of hepatology.
[19] D. Keppler,et al. Radixin deficiency causes conjugated hyperbilirubinemia with loss of Mrp2 from bile canalicular membranes , 2002, Nature Genetics.
[20] U. Seligsohn,et al. Dubin-Johnson syndrome in Israel. I. Clinical, laboratory, and genetic aspects of 101 cases. , 1970, The Quarterly journal of medicine.
[21] Choi Kw,et al. [A case of Dubin-Johnson syndrome]. , 1963 .
[22] F. Johnson,et al. Chronic idiopathic jaundice with unidentified pigment in liver cells; a new clinicopathologic entity with a report of 12 cases. , 1954, Medicine.
[23] T. Luke,et al. Phototherapy , 1899, The Hospital.
[24] R. García Romero,et al. Conjugated hyperbilirubinemia after surgery. A diagnosis of Dubin-Johnson syndrome confirmed by genetic testing. , 2017, Revista espanola de enfermedades digestivas : organo oficial de la Sociedad Espanola de Patologia Digestiva.
[25] D. C. Henckel,et al. Case report. , 1995, Journal.