Recommendations for the management of tyrosinaemia type 1

Autor: de Laet Corinne, Dionisi-Vici Carlo, Leonard James V, McKiernan Patrick, Mitchell Grant, Monti Lidia, de Baulny Hélène Ogier, Pintos-Morell Guillem, Spiekerkötter Ute

Publikováno v: Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 8 (2013)

Abstract The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendat

Externí odkaz: https://doaj.org/article/945b18b2a4014520995d34da3bd9dcc6

Validation of a Clinical Risk-based Classification System in a Large Nonalcoholic Fatty Liver Disease Real-world Cohort

Autor: Abdelmalek, Manal, Aguilar, Humberto, Ahmed, Aijaz, Allen, Alina, Barlow, Sarah, Barritt, Sid, Bernstein, David, Bhamidimarri, Kaylan, Billings, Liana, Brown, Kyle, Brown, Robert, Corbin, Karen, Cusi, Kenneth, deLemos, Andrew, Emerick, Karan, Firpi-Morell, Roberto, Ghali, Maged Adel, Henry, Zachary, Jackson, Whitney, Janardhan, Sujit, Kabbany, Mohammad, Kemmer, Nyingi, Koch, David, Kupec, Justin, Landis, Charles, Lawrence, Mary Katherine, Levy, Cynthia, Lidofsky, Steven, Lok, Anna, Luketic, Velimir, Martinez, Enrique, McClain, Craig, McKiernan, Patrick, Mitchell, Ellen, Noureddin, Mazen, Palle, Sirish, Pham, Yen, Pound, David, Reddy, Rajender, Regenstein, Fredric, Rinella, Mary, Rochling, Fedja, Rudolph, Bryan, Rustgi, Vinod, Said, Adnan, Samala, Niharika, Sarkar, Souvik, Sherman, Kenneth, Shiffman, Mitchell, Smith, Coleman, Taunk, Jawahar, Tetri, Brent, Thuluvath, Paul, Trinh, Huy, Verna, Elizabeth, Vos, Miriam, Weiss, L. Michael, Wong, Mark, Wyne, Kathleen, Xanthakos, Stavra, Sanyal, Arun J., Munoz, Breda, Barritt, A. Sidney, IV, Muthiah, Mark, Mospan, Andrea R., Reddy, K. Rajender, Thuluvath, Paul J., Bhamidimarri, Kalyan Ram, Fried, Michael W.

Publikováno v: In Clinical Gastroenterology and Hepatology October 2023 21(11):2889-2900

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

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

Publikováno v: In JHEP Reports February 2023 5(2)

Mental health providers' perceptions of competency when working with autistic children with co‐occurring mental health diagnoses.

Autor: Linsao, Amy W.¹ (AUTHOR), McKiernan, Patrick M.¹ (AUTHOR), Morgan, Stephanie M.² (AUTHOR) Smorgan7@antioch.edu

Publikováno v: Journal of Community Psychology. Jul2023, Vol. 51 Issue 5, p2026-2034. 9p. 1 Chart.

Longitudinal Outcomes in Young Patients with Alpha-1-Antitrypsin Deficiency with Native Liver Reveal that Neonatal Cholestasis is a Poor Predictor of Future Portal Hypertension

Autor: Alonso, Estella, Bass, Lee, Kelly, Susan, Riordan, Mary, Melin-Aldana, Hector, Bezerra, Jorge, Bove, Kevin, Heubi, James, Miethke, Alexander, Tiao, Greg, Denlinger, Julie, Chapman, Erin, Sokol, Ronald, Feldman, Amy, Mack, Cara, Narkewicz, Michael, Suchy, Frederick, Sundaram, Shikha, Van Hove, Johan, Garcia, Benigno, Kauma, Mikaela, Kocher, Kendra, Steinbeiss, Matthew, Lovell, Mark, Loomes, Kathleen, Piccoli, David, Rand, Elizabeth, Russo, Pierre, Spinner, Nancy, Erlichman, Jessi, Stalford, Samantha, Pakstis, Dina, King, Sakya, Squires, Robert, Sindhi, Rakesh, Venkat, Veena, Bukauskas, Kathy, McKiernan, Patrick, Haberstroh, Lori, Squires, James, Rosenthal, Philip, Bull, Laura, Curry, Joanna, Langlois, Camille, Kim, Grace, Teckman, Jeffery, Kociela, Vikki, Nagy, Rosemary, Patel, Shraddha, Cerkoski, Jacqueline, Molleston, Jean P., Bozic, Molly, Subbarao, Girish, Klipsch, Ann, Sawyers, Cindy, Cummings, Oscar, Horslen, Simon, Murray, Karen, Hsu, Evelyn, Cooper, Kara, Young, Melissa, Finn, Laura, Kamath, Binita, Ng, Vicky, Quammie, Claudia, Putra, Juan, Sharma, Deepika, Parmar, Aishwarya, Guthery, Stephen, Jensen, Kyle, Rutherford, Ann, Lowichik, Amy, Book, Linda, Meyers, Rebecka, Hall, Tyler, Wang, Kasper, Michail, Sonia, Thomas, Danny, Goodhue, Catherine, Kohli, Rohit, Wang, Larry, Soufi, Nisreen, Thomas, Daniel, Karpen, Saul, Gupta, Nitika, Romero, Rene, Jr., Vos, Miriam B., Tory, Rita, Berauer, John-Paul, Abramowsky, Carlos, McFall, Jeanette, Shneider, Benjamin, Harpavat, Sanjiv, Hertel, Paula, Leung, Daniel, Tessier, Mary, Schady, Deborah, Cavallo, Laurel, Olvera, Diego, Banks, Christina, Tsai, Cynthia, Thompson, Richard, Doo, Edward, Hoofnagle, Jay, Sherker, Averell, Torrance, Rebecca, Hall, Sherry, Magee, John, Merion, Robert, Spino, Cathie, Ye, Wen, Teckman, Jeffrey, Hawthorne, Kieran, Bass, Lee M., Murray, Karen F., Kerkar, Nanda, Magee, John C., Heubi, James E., Squires, Robert H., Kamath, Binita M., Guthery, Stephen L., Loomes, Kathleen M., Sherker, Averell H., Sokol, Ronald J.

Publikováno v: In The Journal of Pediatrics December 2020 227:81-86