P258: PPA2 deficiency phenotype

Autor: Danica Novacic, William Gahl, Johan Van Hove, Marisa W. Friederich, Dana Strode, Roxanne Van Hove

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100286- (2023)

Externí odkaz: https://doaj.org/article/bb6bc6297ed5498686efcb246ca9a4b2

The mitochondrial calcium uniporter compensates for Complex I dysfunction

Autor: Enrique Balderas, David Eberhardt, John Pleinis, Salah Sommakia, Anthony Balynas, Xue Yin, Sandra Lee, Mitchell Parker, Colin Maguire, Scott Cho, Anna Bakhtina, Ryan Bia, Marisa Friederich, Timothy Locke, Johan Van Hove, Stavros Drakos, Yasemin Sancak, Martin Tristani-Firouzi, Sarah Franklin, Aylin Rodan, Dipayan Chaudhuri

Calcium (Ca2+) entering mitochondria potently stimulates ATP synthesis. Increases in Ca2+ preserve energy synthesis in cardiomyopathies caused by mitochondrial dysfunction, and occur due to enhanced activity of the mitochondrial Ca2+ uniporter channe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6a8cd9fb8eed600b28301b0abca4f143
https://doi.org/10.21203/rs.3.rs-378028/v1

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

Publikováno v: J Pediatr

Objectives To identify predictors of portal hypertension, liver transplantation, and death in North American youth with alpha-1-antitrypsin (AAT) deficiency, and compare with patients with AAT deficiency elsewhere. Study design The Childhood Liver Di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cd1fb8e0c5fcfe9176513fd965cc3df
https://doi.org/10.1016/j.jpeds.2020.07.031

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

Autor: Anibh M. Das, Nanda Verhoeven, Levinus A. Bok, Alette Giezen, U. Meyer, Renata C. Gallagher, Monique Albersen, Sidney M. Gospe, Clara D.M. van Karnebeek, Hans Hartmann, Barbara Cheng, Sravan Jaggumantri, Curtis R. Coughlin, Barbara Plecko, Sylvia Stockler-Ipsiroglu, Wahla Al-Hertani, Gloria Ho, Peter Baxter, Birgit Assmann, Daniela Buhas, Philippa B. Mills, Eduard A. Struys, Johan Van Hove, Keiko Ueda

Publikováno v: JIMD Reports ISBN: 9783662437506
van Karnebeek, C D, Stockler-Ipsiroglu, S, Jaggumantri, S, Assmann, B, Baxter, P, Bushas, D, Bok, L A, Cheng, B, Coughlin, C R, Das, A M, Giezen, A, Al-Hertani, W, Ho, G, Meyer, U, Mills, P, Plecko, B, Struys, E A, Ueda, K, Albersen, M, Verhoeven, N, Gospe, S M J, Gallagher, R C, Van Hove, J K & Harmann, H 2014, ' Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations ', JIMD Reports, vol. 15, pp. 1-11 . https://doi.org/10.1007/8904_2014_296
JIMD Reports, 15, 1-11. Springer Berlin
JIMD Reports, 47-57
STARTPAGE=47;ENDPAGE=57;TITLE=JIMD Reports

Background: Seventy-five percent of patients with pyridoxine-dependent epilepsy (PDE) due to Antiquitin (ATQ) deficiency suffer from developmental delay and/or intellectual disability (IQ < 70) despite seizure control. An observational study showed t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a85d938e17e7f7f3bc1c693b927b42
https://doi.org/10.1007/8904_2014_296

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

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

Publikováno v: The Journal of Pediatrics. 170:211-217.e2

Objectives To prospectively assess the value of serum total bilirubin (TB) within 3 months of hepatoportoenterostomy (HPE) in infants with biliary atresia as a biomarker predictive of clinical sequelae of liver disease in the first 2 years of life. S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0eaaa293565a081106d7379c9aba5fa3
https://doi.org/10.1016/j.jpeds.2015.11.058