Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

Autor: Antonia Felzen, Daan B.E. van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A. Bezerra, Kasper Wang, Bettina E. Hansen, Henkjan J. Verkade

Publikováno v: JHEP Reports, Vol 5, Iss 2, Pp 100626- (2023)

Background & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with rela

Externí odkaz: https://doaj.org/article/bbb97439dbff47198444dd0e83e7f0cb

A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1

Autor: Margaret Reynolds, Laura A. Linneman, Sofia Luna, Barbara B. Warner, Yumirle P. Turmelle, Sakil S. Kulkarni, Xuntian Jiang, Geetika Khanna, Marwan Shinawi, Forbes D. Porter, Daniel S. Ory, F. Sessions Cole, Patricia I. Dickson

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100772- (2021)

Introduction: Niemann-Pick C (NPC) is an autosomal recessive disease due to defective NPC1 or NPC2 proteins resulting in endo-lysosomal storage of unesterified cholesterol in the central nervous system and liver. Acute liver disease in the newborn pe

Externí odkaz: https://doaj.org/article/6762ff35c1bf46e484e7e285da4260e0

Impact of Steroid Therapy on Early Growth in Infants with Biliary Atresia: The Multicenter Steroids in Biliary Atresia Randomized Trial

Autor: Alonso, Estella M. ^*, Ye, Wen, Hawthorne, Kieran, Venkat, Veena, Loomes, Kathleen M., Mack, Cara L., Hertel, Paula M., Karpen, Saul J., Kerkar, Nanda, Molleston, Jean P., Murray, Karen F., Romero, Rene, Rosenthal, Philip, Schwarz, Kathleen B., Shneider, Benjamin L., Suchy, Frederick J., Turmelle, Yumirle P., Wang, Kasper S., Sherker, Averell H., Sokol, Ronald J., Bezerra, Jorge A., Magee, John C.

Publikováno v: In The Journal of Pediatrics November 2018 202:179-185

Integrating Research, Quality Improvement, and Medical Education for Better Handoffs and Safer Care: Disseminating, Adapting, and Implementing the I-PASS Program

Autor: Landrigan, Christopher P., Spector, Nancy D., Starmer, Amy J., Sectish, Theodore C., Srivastava, Rajendu, West, Daniel C., Menon, Aravind Ajakumar, Ali, Arshia, Allair, Brenda K., Allen, April D., Almaddah, Nureddin, Alminde, Claire, Alvarado-Little, Wilma, Anson, Elizabeth, Ashland, Michele, Atsatt, Marisa, Aylor, Megan, Baird, Jennifer D., Bale, James F., Jr, Balmer, Dorene, Barber, Aisha, Barton, Kevin, Bates, Kimberly, Beck, Carolyn, Berchelmann, Kathleen, Bhan, Renuka, Bismilla, Zia, Blankenburg, Rebecca L., Boa-Hocbo, Aileen, Bordin-Wosk, Talya, Brooks, Michelle, Calaman, Sharon, Campe, Julie, Campos, Maria Lucia, Chandler, Debra, Cheung, Yvonne, Choudhary, Amanda, Christensen, Eileen, Clark, Katherine, Coffey, Maitreya, Coghlan-McDonald, Sally, Cohen, Ellen, Cole, F. Sessions, Corless, Elizabeth, Cray, Sharon, Da Silva, Roxi, Dahale, Devesh, Dalal, Anuj K., Destino, Lauren A., Doroshow, Jonathan, Dreyer, Benard, duPont, Katharine, Eagle, Steven, Edgar-Zarate, Courtney, Etzenhouser, Angie, Everhart, Jennifer L., Feraco, Angela M., Ferrer, Alexandra, Galardy, Paul, Garcia, Briana M., Gaspar-Oishi, Maria, Goldstein, Jenna, Good, Brian P., Graham, Dionne A, Growdon, Amanda S., Gubler, LeAnn, Guiot, Amy, Hanlon, Charin, Hanna-Attisha, Mona, Harris, Roben, Haskell, Helen, Hecht, Melvyn, Hehn, Rebecca S, Held, Justin, Hepps, Jennifer H., Hillier, Debra, Hiraoka, Mark, Howell, Eric, Hrach, Christine, Hughes, Helen, Huskins, Charles, Kaatz, Scott, Kanala, Vishnu, Kantrowitz, Michael, Kaplan, Peter, Kashiwagi, Deanne, Kaul, Rajat, Keohane, Carol A., Kern, Jeremy, Khan, Alisa, Khan, Nazia Naz S., Kitch, Barry, Kocolas, Irene, Kothari, Lara, Kruvand, Elizabeth, Kuzma, Nicholas, Lacy, Mary, Lane, Michele, Langrish, Kate, Ledford, Christy J.W., LeRoux, Laura, Lewis, Kheyandra, Lipsitz, Stuart, Litterer, Katherine P., Lopreiato, Joseph O., Lyons, Aimee, Mack, Avram, Mallouk, Meghan, Maloney, Christopher G., Mangan, Amanda, Mann, Keith, Markle, Peggy, Marrese, Christine, Marseille, David, Maynard, Greg, Mehta, Bijal, Mendoza, Fernando, Mercer, Alexandra N., Micalizzi, Dale, Mims, Lisa, Mittal, Vineeta, Mueller, Stephanie, Ngo, Thuy L., Nolan, Ann, Nyenpan, Christopher, Obermeyer, Maria, O'Donnell, Katherine, O'Toole, Jennifer K., Ottolini, Mary, Owolabi, Mobola, Patel, Aarti, Patel, Rajesh, Patel, Shilpa J., Perron, Catherine, Pickler, Rita, Popa, Alina, Reppert, Patrick, Riss, Robert, Roesch, Justin, Rogers, Jayne E., Rosenbluth, Glenn, Rothschild, Jeffrey M., Sanders, Lee, Sauder, Kimberly, Schnipper, Jeff, Schnock, Kumiko O, Scholtz, Amy, Seltz, Barry, Serra, Theresa, Serwint, Janet, Shah, Samir, Sharma, Meesha, Sheppard, Kathleen, Simpkin, Arabella, Sloan, Karin A, Solan, Lauren G., Southgate, Michael W, Spackman, Jaime Blank, Stevens, Scott M., Stevenson, Adam, Stevenson, Windy, Subramony, Anupama, Surkis, William, Thangarasu, Sudhagar, Thompson, E. Douglas, Toole, Cheryl, Trueman, Laura, Trujillo, Tanner, Tse, Lisa, Turmelle, Michael P., Vaniawala, Vishwas, Wagner, Tamara, Warnick, Cindy, Webster, John, Webster, Mary, Weinerman, Adina, Welch, Chelsea, White, Andrew J., Wien, Matthew F., Winn, Ariel S., Wintch, Stephanie, Yin, H. Shonna, Yoon, Catherine S., Yu, Clifton E., Zampino, Dominick, Zigmont, Katherine R.

Publikováno v: In The Joint Commission Journal on Quality and Patient Safety July 2017 43(7):319-329

Total Serum Bilirubin within 3 Months of Hepatoportoenterostomy Predicts Short-Term Outcomes in Biliary Atresia

Autor: Alonso, Estella, Kaurs, Elizabeth, Kelly, Sue, Bove, Kevin, Heubi, James, Miethke, Alexander, Tiao, Greg, Denlinger, Julie, Ferris, Andrea, Feldman, Amy, Mack, Cara, Suchy, Frederick, Sundaram, Shikha, Van Hove, Johan, Hite, Michelle, Kantor, Susanna, Miller, Todd, Smith, Julia, VanWinkle, Becky, Loomes, Kathleen, Lin, Henry, Piccoli, David, Russo, Pierre, Spinner, Nancy, Brown, Lindsay, Elgert, Emily, Erlichman, Jessi, Alissa, Feras, Lindblad, Douglas, Mazariegos, George, Ortiz-Aguayo, Roberto, Perlmutter, David, Sindhi, Rakesh, Venkat, Veena, Vockley, Jerry, Bukauskas, Kathy, Kufen, Adam, Schulte, Madeline, Bull, Laura, Fleck, Shannon, Langlois, Camille, Teckman, Jeffery, Kociela, Vikki, Postma, Stacy, Harris, Kathleen, Bozic, Molly, Subbarao, Girish, Byam, Beth, Klipsch, Ann, Sawyers, Cindy, Horslen, Simon, Hsu, Evelyn, Cooper, Kara, Young, Melissa, Kamath, Binita, DeAngelis, Maria, O'Connor, Constance, VanRoestel, Krista, Parmar, Arpita, Quammie, Claudia, Hung, Kelsey, Guthery, Stephen, Jensen, Kyle, Rutherford, Ann, Kerker, Nanda, Michail, Sonia, Thomas, Danny, Goodhue, Catherine, Gupta, Nikita, Vos, Mariam, de la Cruz-Tracey, Liezl, Hankerson-Dyson, Dana, Tory, Rita, Turner-Green, Taieshia, Wellons, Allison, Brandt, Mary, Finegold, Milton, Harpavat, Sanjiv, Hertel, Paula, Leung, Daniel, Liwanag, Loriel, Thompson, Richard, Brown, Sherry, Doo, Edward, Hoofnagle, Jay, Hall, Sherry, Torrance, Rebecca, Brown, Jameisha, Kafka, Kimberly, Merion, Robert, Spino, Cathie, Shneider, Benjamin L., Magee, John C., Karpen, Saul J., Rand, Elizabeth B., Narkewicz, Michael R., Bass, Lee M., Schwarz, Kathleen, Whitington, Peter F., Bezerra, Jorge A., Kerkar, Nanda, Haber, Barbara, Rosenthal, Philip, Turmelle, Yumirle P., Molleston, Jean P., Murray, Karen F., Ng, Vicky L., Wang, Kasper S., Romero, Rene, Squires, Robert H., Arnon, Ronen, Sherker, Averell H., Moore, Jeffrey, Ye, Wen, Sokol, Ronald J.

Publikováno v: In The Journal of Pediatrics March 2016 170:211-217