Artykuły w czasopismach na temat „Pfic2”
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Kim, Kang Ho, Jong Min Choi, Feng Li, Armando Arizpe, Clavia Ruth Wooton-Kee, Sayeepriyadarshini Anakk, Sung Yun Jung, Milton J. Finegold i David D. Moore. "Xenobiotic Nuclear Receptor Signaling Determines Molecular Pathogenesis of Progressive Familial Intrahepatic Cholestasis". Endocrinology 159, nr 6 (26.04.2018): 2435–46. http://dx.doi.org/10.1210/en.2018-00110.
Pełny tekst źródłaKagawa, Tatehiro, Norihito Watanabe, Kaori Mochizuki, Asano Numari, Yoshie Ikeno, Johbu Itoh, Hirotoshi Tanaka, Irwin M. Arias i Tetsuya Mine. "Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells". American Journal of Physiology-Gastrointestinal and Liver Physiology 294, nr 1 (styczeń 2008): G58—G67. http://dx.doi.org/10.1152/ajpgi.00367.2007.
Pełny tekst źródłaMareux, Elodie, Martine Lapalus, Amel Ben Saad, Renaud Zelli, Mounia Lakli, Yosra Riahi, Marion Almes i in. "In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators". International Journal of Molecular Sciences 23, nr 18 (15.09.2022): 10758. http://dx.doi.org/10.3390/ijms231810758.
Pełny tekst źródłaDavit-Spraul, Anne, Monique Fabre, Sophie Branchereau, Christiane Baussan, Emmanuel Gonzales, Bruno Stieger, Olivier Bernard i Emmanuel Jacquemin. "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". Hepatology 51, nr 5 (28.01.2010): 1645–55. http://dx.doi.org/10.1002/hep.23539.
Pełny tekst źródłaLam, Ping, Claire L. Pearson, Carol J. Soroka, Shuhua Xu, Albert Mennone i James L. Boyer. "Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases". American Journal of Physiology-Cell Physiology 293, nr 5 (listopad 2007): C1709—C1716. http://dx.doi.org/10.1152/ajpcell.00327.2007.
Pełny tekst źródłaEvason, Kimberley, Kevin E. Bove, Milton J. Finegold, A. S. Knisely, Sue Rhee, Philip Rosenthal, Alexander G. Miethke, Saul J. Karpen, Linda D. Ferrell i Grace E. Kim. "Morphologic Findings in Progressive Familial Intrahepatic Cholestasis 2 (PFIC2)". American Journal of Surgical Pathology 35, nr 5 (maj 2011): 687–96. http://dx.doi.org/10.1097/pas.0b013e318212ec87.
Pełny tekst źródłaGoto, Kenji, Kohachiro Sugiyama, Tokio Sugiura, Toshihiro Ando, Fumihiko Mizutani, Koji Terabe, Kyoko Ban i Hajime Togari. "Bile Salt Export Pump Gene Mutations in Two Japanese Patients With Progressive Familial Intrahepatic Cholestasis". Journal of Pediatric Gastroenterology and Nutrition 36, nr 5 (maj 2003): 647–50. http://dx.doi.org/10.1002/j.1536-4801.2003.tb08089.x.
Pełny tekst źródłaGooijert, K. E. R., R. Havinga, H. Wolters, R. Wang, V. Ling, S. Tazuma i H. J. Verkade. "The mechanism of increased biliary lipid secretion in mice with genetic inactivation of bile salt export pump". American Journal of Physiology-Gastrointestinal and Liver Physiology 308, nr 5 (1.03.2015): G450—G457. http://dx.doi.org/10.1152/ajpgi.00391.2014.
Pełny tekst źródłaMushiake, S., K. Kawamoto, N. Kobayashi, Y. Etani, Y. Miyoshi, K. Ozono, T. Hasegawa, R. Sumazaki i A. Matsui. "P0194 A CASE OF PFIC2 WHO UNDERWENT LIVING-RELATED ORTHOTOPIC LIVER TRANSPLANTATION". Journal of Pediatric Gastroenterology and Nutrition 39, Supplement 1 (czerwiec 2004): S132. http://dx.doi.org/10.1097/00005176-200406001-00318.
Pełny tekst źródłaRumbo, Carolina, Juan P. Santilli, Julio J. Trentadue i Gabriel E. Gondolesi. "Double Heterozygous Mutation Causing PFIC2 with Synchronic Hepatocellular Carcinomas before Two Years of Age". Transplantation 102 (lipiec 2018): S848. http://dx.doi.org/10.1097/01.tp.0000543914.64104.9e.
Pełny tekst źródłaLiu, Teng, Ren-Xue Wang, Jun Han, Yi-Ling Qiu, Christoph H. Borchers, Victor Ling i Jian-She Wang. "Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients". Annals of Translational Medicine 8, nr 5 (marzec 2020): 185. http://dx.doi.org/10.21037/atm.2020.01.103.
Pełny tekst źródłaLam, Ching-Wan, Ka-Ming Cheung, Man-Shan Tsui, Matthew Shu-Ching Yan, Ching-Yin Lee i Sui-Fan Tong. "A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2". Journal of Hepatology 44, nr 1 (styczeń 2006): 240–42. http://dx.doi.org/10.1016/j.jhep.2005.09.013.
Pełny tekst źródłaHayashi, Hisamitsu, Tappei Takada, Hiroshi Suzuki, Hidetaka Akita i Yuichi Sugiyama. "Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11". Hepatology 41, nr 4 (2005): 916–24. http://dx.doi.org/10.1002/hep.20627.
Pełny tekst źródłaSheridan, Rachel M., Anita Gupta, Alexander Miethke, Alexander S. Knisely i Kevin E. Bove. "Multiple Dysplastic Liver Nodules in PFIC2 Underscore Risk for Neoplasia Associated With Functional BSEP Deficiency". American Journal of Surgical Pathology 36, nr 5 (maj 2012): 785–86. http://dx.doi.org/10.1097/pas.0b013e3182500c35.
Pełny tekst źródłaSohail, Muhammad Imran, Yaprak Dönmez-Cakil, Dániel Szöllősi, Thomas Stockner i Peter Chiba. "The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies". International Journal of Molecular Sciences 22, nr 2 (14.01.2021): 784. http://dx.doi.org/10.3390/ijms22020784.
Pełny tekst źródłaAnanthanarayanan, Meenakshisundaram, i Yanfeng Li. "PFIC2 and ethnicity-specific bile salt export pump (BSEP, ABCB11) mutations: where do we go from here?" Liver International 30, nr 6 (8.03.2010): 777–79. http://dx.doi.org/10.1111/j.1478-3231.2010.02227.x.
Pełny tekst źródłaKAGAWA, T., K. MOCHIZUKI, M. HARRIS, N. WATANABE, T. MINE, S. MATSUZAKI i I. ARIAS. "475 Bile acid transport activity and intracellular distribution of PFIC2 mutants in MDCKII cells coexpressing NTCP and BSEP". Hepatology 38 (2003): 389. http://dx.doi.org/10.1016/s0270-9139(03)80517-7.
Pełny tekst źródłaBosma, Piter J., Marius Wits i Ronald P. J. Oude-Elferink. "Gene Therapy for Progressive Familial Intrahepatic Cholestasis: Current Progress and Future Prospects". International Journal of Molecular Sciences 22, nr 1 (29.12.2020): 273. http://dx.doi.org/10.3390/ijms22010273.
Pełny tekst źródłaHartleb, M., M. Jirsa, M. Zindr, J. Pawlowska, I. Jankowska i J. Cielecka-Kuszyk. "Slowly Developing Progressive Familial Intrahepatic Cholestasis Type 2 (PFIC2) in an Adolescent with Cholelithiasis, Gilbert's Syndrome and Chronic Calcifying Pancreatitis". Open Gastroenterology Journal 2, nr 1 (3.06.2008): 38–40. http://dx.doi.org/10.2174/1874259900802010038.
Pełny tekst źródłaGül-Klein, Safak, Robert Öllinger, Moritz Schmelzle, Johann Pratschke i Wenzel Schöning. "Long-Term Outcome after Liver Transplantation for Progressive Familial Intrahepatic Cholestasis". Medicina 57, nr 8 (22.08.2021): 854. http://dx.doi.org/10.3390/medicina57080854.
Pełny tekst źródłaKüçükçongar Yavaş, Aynur, Büşra Çavdarlı, Özlem Ünal Uzun, Ayşen Uncuoğlu i Mehmet Gündüz. "A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis". Journal of Pediatric Endocrinology and Metabolism 33, nr 5 (26.05.2020): 665–69. http://dx.doi.org/10.1515/jpem-2019-0314.
Pełny tekst źródłaAtimati, Anthony Oyovwikigho, i Paul Ikhurionan. "A suspected case of Progressive Familial Intra-hepatic Cholestasis in a Six-Year-Old Nigerian Child". Annals of Health Research 5, nr 1 (1.06.2019): 135–40. http://dx.doi.org/10.30442/ahr.0501-14-44.
Pełny tekst źródłaCentenari, C., M. Fabre, M. Sciveres, E. Jacquemin i G. Maggiore. "CO18 RELAPSING FEATURES OF BILE SALT EXPORT PUMP (BSEP) DEFICIENCY IN A PATIENT SUCCESSFULLY TRANSPLANTED FOR PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2 (PFIC2)". Digestive and Liver Disease 42 (październik 2010): S329. http://dx.doi.org/10.1016/s1590-8658(10)60561-0.
Pełny tekst źródłaMaggiore, G., M. Fabre, M. Sciveres, M. J. Redon, B. Stieger, A. Davit-Spraul i E. Jaquemin. "1128 RELAPSING FEATURES OF BILE SALT EXPORT PUMP (BSEP) DEFICIENCY IN TWO PATIENTS SUCCESSFULLY TRANSPLANTED FOR PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2 (PFIC2)". Journal of Hepatology 52 (kwiecień 2010): S435. http://dx.doi.org/10.1016/s0168-8278(10)61129-4.
Pełny tekst źródłaSticova, Eva, Milan Jirsa i Joanna Pawłowska. "New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications". Canadian Journal of Gastroenterology and Hepatology 2018 (26.07.2018): 1–12. http://dx.doi.org/10.1155/2018/2313675.
Pełny tekst źródłaGonzales, E., B. Grosse, M. J. Redon, I. Friteau, A. Davit-Spraul, M. Fabre i E. Jacquemin. "Allo-immunisation anti-BSEP (Bile Salt Export Pump) post-transplantation hépatique pour cholestase intrahépatique progressive familiale de type 2 (PFIC2) : une complication sous-estimée ?" Archives de Pédiatrie 18, nr 12 (grudzień 2011): 1326. http://dx.doi.org/10.1016/j.arcped.2011.09.015.
Pełny tekst źródłaTakahashi, Atsushi, Makoto Hasegawa, Ryo Sumazaki, Makoto Suzuki, Fumiaki Toki, Taketoshi Suehiro, Kazumichi Onigata i in. "Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2". European Journal of Gastroenterology & Hepatology 19, nr 11 (listopad 2007): 942–46. http://dx.doi.org/10.1097/meg.0b013e3282ef4795.
Pełny tekst źródłaWong, Lee-Jun C., David Dimmock, Michael T. Geraghty, Richard Quan, Uta Lichter-Konecki, Jing Wang, Ellen K. Brundage, Fernando Scaglia i A. Craig Chinault. "Utility of Oligonucleotide Array–Based Comparative Genomic Hybridization for Detection of Target Gene Deletions". Clinical Chemistry 54, nr 7 (1.07.2008): 1141–48. http://dx.doi.org/10.1373/clinchem.2008.103721.
Pełny tekst źródłaAyub, Tanzeela, i Michael Pereira. "Personal Tax Planning: What Is at Stake for US Beneficiaries of Canadian Estates". Canadian Tax Journal/Revue fiscale canadienne 70, nr 2 (lipiec 2022): 433–50. http://dx.doi.org/10.32721/ctj.2022.70.2.ptp.
Pełny tekst źródłaMartínez-García, Javier, Angie Molina, Gloria González-Aseguinolaza, Nicholas D. Weber i Cristian Smerdou. "Gene Therapy for Acquired and Genetic Cholestasis". Biomedicines 10, nr 6 (26.05.2022): 1238. http://dx.doi.org/10.3390/biomedicines10061238.
Pełny tekst źródłaAlsohaibani, Fahad I., Musthafa C. Peedikayil, Abdulaziz F. Alfadley, Mohamed K. Aboueissa, Faisal A. Abaalkhail i Saleh A. Alqahtani. "Progressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center". International Journal of Hepatology 2023 (20.07.2023): 1–8. http://dx.doi.org/10.1155/2023/1960152.
Pełny tekst źródłaReddy, Saigopala, Nathan Fleishman, Katherine Dempsey, Edwin Ferren, Michal Kamionek i Vani V. Gopalareddy. "Progressive Familial Intrahepatic Cholestasis-2 Mimicking Non-accidental Injury". ACG Case Reports Journal 11, nr 4 (kwiecień 2024): e01312. http://dx.doi.org/10.14309/crj.0000000000001312.
Pełny tekst źródłaZampaglione, Lucia, Anne-Laure Rougemont, Laura Rubbia-Brandt, Marc Abramowicz, Michel Guipponi, Enrica Marchionni, McLin Valerie i Nicolas Goossens. "Variable Intrafamilial Expression of ABCB4 Disease". ACG Case Reports Journal 10, nr 8 (sierpień 2023): e01113. http://dx.doi.org/10.14309/crj.0000000000001113.
Pełny tekst źródłaHüpper, Maria Noelle, Judith Pichler, Wolf-Dietrich Huber, Andreas Heilos, Rebecca Schaup, Martin Metzelder i Sophie Langer. "Surgical versus Medical Management of Progressive Familial Intrahepatic Cholestasis—Case Compilation and Review of the Literature". Children 10, nr 6 (26.05.2023): 949. http://dx.doi.org/10.3390/children10060949.
Pełny tekst źródłaJansen, Peter LM, i Michael Müller. "Genetic Cholestasis: Lessons from the Molecular Physiology of Bile Formation". Canadian Journal of Gastroenterology 14, nr 3 (2000): 233–38. http://dx.doi.org/10.1155/2000/514172.
Pełny tekst źródłaQi, Yue, Chun Li Zheng i Yong Huan Yang. "Aerobic Degradation of Nitrobenzene by Immobilization of Streptomyces albidoflavus in Polyurethane Foam". Advanced Materials Research 610-613 (grudzień 2012): 1845–52. http://dx.doi.org/10.4028/www.scientific.net/amr.610-613.1845.
Pełny tekst źródłaHang, Chenyue, Yijie Jin, Yi Luo, Mingxuan Feng, Tao Zhou, Jianjun Zhu, Jianjun Zhang, Yuan Liu i Qiang Xia. "Long-Term Results of Pediatric Liver Transplantation for Progressive Familial Intrahepatic Cholestasis". Journal of Clinical Medicine 11, nr 16 (11.08.2022): 4684. http://dx.doi.org/10.3390/jcm11164684.
Pełny tekst źródłaKavallar, Anna M., Franka Messner, Stefan Scheidl, Rupert Oberhuber, Stefan Schneeberger, Denise Aldrian, Valeria Berchtold i in. "Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-Associated Graft Inflammation and Steatosis after Liver Transplantation". Children 9, nr 12 (14.12.2022): 1964. http://dx.doi.org/10.3390/children9121964.
Pełny tekst źródłaMirza, Nida, Smita Malhotra i Anupam Sibal. "A Novel Compound Heterozygous Mutation in ABCB4 Gene Leading to Cholelithiasis, Progressive Familial Intrahepatic Cholestasis (Type 3), and Cirrhosis in a Child". Journal of Child Science 10, nr 01 (styczeń 2020): e134-e136. http://dx.doi.org/10.1055/s-0040-1717106.
Pełny tekst źródłaGómez-Mellado, Valentina E., Jung-Chin Chang, Kam S. Ho-Mok, Carmen Bernardino Morcillo, Remco H. J. Kersten, Ronald P. J. Oude Elferink, Arthur J. Verhoeven i Coen C. Paulusma. "ATP8B1 Deficiency Results in Elevated Mitochondrial Phosphatidylethanolamine Levels and Increased Mitochondrial Oxidative Phosphorylation in Human Hepatoma Cells". International Journal of Molecular Sciences 23, nr 20 (15.10.2022): 12344. http://dx.doi.org/10.3390/ijms232012344.
Pełny tekst źródłaDimopoulou, Anastasia, Dimitra Dimopoulou, Nikolaos Zavras, Eleni Kontaki, George Vaos i Smaragdi Fessatou. "Ileal bypass for pruritus relief in a 3-year-old boy with advanced progressive familial intrahepatic cholestasis: how effective is it?" Folia Medica 65, nr 1 (28.02.2023): 183–85. http://dx.doi.org/10.3897/folmed.65.e73628.
Pełny tekst źródłaAbi Radi Abou Jaoudeh, Rasha, Brendan McCleary i Kadakkal Radhakrishnan. "Low Gamma-Glutamyl Transferase Cholestasis in a Patient With X-Linked Myotubular Myopathy and Crohn's Disease". ACG Case Reports Journal 11, nr 1 (styczeń 2024): e01240. http://dx.doi.org/10.14309/crj.0000000000001240.
Pełny tekst źródłaTibesar, Eric, Christine Karwowski, Paula Hertel, Ann Scheimann i Wikrom Karnsakul. "Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice". Case Reports in Pediatrics 2014 (2014): 1–4. http://dx.doi.org/10.1155/2014/185923.
Pełny tekst źródłaSaleem, Komal, Qingbo Cui, Tahir Zaib, Siqi Zhu, Qian Qin, Yusi Wang, Jinxi Dam i in. "Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3". Disease Markers 2020 (16.06.2020): 1–10. http://dx.doi.org/10.1155/2020/6292818.
Pełny tekst źródłaСергиенко, Е. Н., О. Н. Романова, А. А. Ключарева, А. В. Сукало, С. К. Клецкий, А. М. Кашкан, Л. И. Кастюкевич i Е. П. Михаленко. "Clinical Case of the Byler’s Syndrome in a Child". Педиатрия. Восточная Европа, nr 4 (24.01.2021): 578–88. http://dx.doi.org/10.34883/pi.2020.8.4.009.
Pełny tekst źródłaUtagawa, Claudia Yamada, Ana Clara Gonçalves Oliveira, Isabela Ribeiro Pereira i Thamires Pereira Noronha. "Colestase intra-hepática familiar progressiva: relato de dois casos". Revista da Faculdade de Ciências Médicas de Sorocaba 19, nr 3 (13.11.2017): 160. http://dx.doi.org/10.23925/1984-4840.2017v19i3a13.
Pełny tekst źródłaPanasiti, Ilenia, Silvana Briuglia, Stefano Costa i Lucia Caminiti. "Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child". BMJ Case Reports 12, nr 10 (październik 2019): e230152. http://dx.doi.org/10.1136/bcr-2019-230152.
Pełny tekst źródłaSokol, Ronald J. "Molecular Chaperones as Therapy for PFIC". Journal of Pediatric Gastroenterology and Nutrition 62, nr 3 (marzec 2016): 360–62. http://dx.doi.org/10.1097/mpg.0000000000001109.
Pełny tekst źródłaThompson, R. J. "P0019 PP SURGICAL MANAGEMENT OF PFIC". Journal of Pediatric Gastroenterology and Nutrition 39, Supplement 1 (czerwiec 2004): S63. http://dx.doi.org/10.1097/00005176-200406001-00143.
Pełny tekst źródłaVolynets, Galina V. "FAMILIAL INTRAHEPATIC CHOLESTASIS IN CHILDREN: PROBLEMS AND PROSPECTS". Russian Pediatric Journal 22, nr 6 (15.12.2019): 388–94. http://dx.doi.org/10.18821/1560-9561-2019-22-6-388-394.
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