Zobrazeno 1 - 10
of 553
pro vyhledávání: '"J, McKiernan"'
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
Autor:
Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M. van Hasselt, Paul Gissen, Philippe J. Goyens, Patrick J. McKiernan, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Stephan C. J. Huijbregts, Francjan J. van Spronsen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive o
Externí odkaz:
https://doaj.org/article/456f9a0c82e24d62a934b9c10dcac704
Autor:
Paul J. McKiernan, Kevin P. Molloy, Arlene M. A. Glasgow, Noel G. McElvaney, Catherine M. Greene
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Altered microRNA expression patterns in bronchial brushings from people with versus without cystic fibrosis (CF) relate to functional changes and disease pathophysiology. The expression of microRNAs encoded on the X chromosome is also altered in peri
Externí odkaz:
https://doaj.org/article/68dd703e57e24bf2b32488e33cb71dc7
Autor:
Srividya Sreekantam, Hina Rizvi, Rachel Brown, Saikat Santra, Julian Raiman, Suresh Vijay, Patrick J. Mckiernan, Girish L. Gupte
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 22-24 (2020)
Abstract Our subject presented at 11 months of age, following a varicella zoster infection, with acute on chronic liver disease and was found to have raised serum chitotriosidase. White cell enzyme analysis for Gaucher, Niemann Pick A, B and lysosoma
Externí odkaz:
https://doaj.org/article/40ef5ed4372346a48346a91859002cc0
Publikováno v:
JIMD Reports, Vol 47, Iss 1, Pp 4-8 (2019)
Abstract Introduction ARC (arthrogryposis, renal dysfunction, and cholestasis) syndrome is an uncommon multisystem disorder that entails a very poor prognosis. It is caused by mutations in either VPS33B or VIPAS39 gene, both playing a key role in int
Externí odkaz:
https://doaj.org/article/2cead5dd9b434734827ea3984cb3d2f5
Autor:
Melania M. Bembea, Michael Agus, Ayse Akcan-Arikan, Peta Alexander, Rajit Basu, Tellen D. Bennett, Desmond Bohn, Leonardo R. Brandão, Ann-Marie Brown, Joseph A. Carcillo, Paul Checchia, Jill Cholette, Ira M. Cheifetz, Timothy Cornell, Allan Doctor, Michelle Eckerle, Simon Erickson, Reid W.D. Farris, E. Vincent S. Faustino, Julie C. Fitzgerald, Dana Y. Fuhrman, John S. Giuliano, Kristin Guilliams, Michael Gaies, Stephen M. Gorga, Mark Hall, Sheila J. Hanson, Mary Hartman, Amanda B. Hassinger, Sharon Y. Irving, Howard Jeffries, Philippe Jouvet, Sujatha Kannan, Oliver Karam, Robinder G. Khemani, Niranjan Kissoon, Jacques Lacroix, Peter Laussen, Francis Leclerc, Jan Hau Lee, Stephane Leteurtre, Katie Lobner, Patrick J. McKiernan, Kusum Menon, Paul Monagle, Jennifer A. Muszynski, Folafoluwa Odetola, Robert Parker, Nazima Pathan, Richard W. Pierce, Jose Pineda, Jose M. Prince, Karen A. Robinson, Courtney M. Rowan, Lindsay M. Ryerson, L. Nelson Sanchez-Pinto, Luregn J. Schlapbach, David T. Selewski, Lara S. Shekerdemian, Dennis Simon, Lincoln S. Smith, James E. Squires, Robert H. Squires, Scott M. Sutherland, Yves Ouellette, Michael C. Spaeder, Vijay Srinivasan, Marie E. Steiner, Robert C. Tasker, Ravi Thiagarajan, Neal Thomas, Pierre Tissieres, Chani Traube, Marisa Tucci, Katri V. Typpo, Mark S. Wainwright, Shan L. Ward, R. Scott Watson, Scott Weiss, Jane Whitney, Doug Willson, James L. Wynn, Nadir Yeyha, Jerry J. Zimmerman
Publikováno v:
Pediatrics
Prior criteria for organ dysfunction in critically ill children were based mainly on expert opinion. We convened the Pediatric Organ Dysfunction Information Update Mandate (PODIUM) expert panel to summarize data characterizing single and multiple org
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06f8da307efc2410e3bc23f4eec206fc
https://doi.org/10.1542/peds.2021-052888b
https://doi.org/10.1542/peds.2021-052888b
Autor:
J Travers, R Romero-Ortuno, J Langan, F MacNamara, D McCormack, C McDermott, J McEntire, J McKiernan, S Lacey, P Doran, D Power, M-T Cooney
Publikováno v:
Age and Ageing. 51
Background There is a need for effective primary-care interventions that help older people combat frailty and build resilience. This study aims to test the effectiveness of a co-designed exercise and dietary protein intervention. Methods This was a m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b0115dfddc8d9ce58478bbd59104954
https://doi.org/10.1093/ageing/afac218.019
https://doi.org/10.1093/ageing/afac218.019
Akademický článek
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Autor:
Patrick J. McKiernan, Mary Ayers
Publikováno v:
Paediatrics and Child Health. 31:442-444
Biliary malformations in children are rare, but important to recognize. Diagnostic delay compromises outcomes. Some may be diagnosed prenatally, others in the newborn period, usually with clinical presentation of jaundice, with or without abdominal p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9616ad6ec73d41a4a97b7ff32cb9dde
https://doi.org/10.1016/j.paed.2021.09.003
https://doi.org/10.1016/j.paed.2021.09.003
Publikováno v:
Practical Pediatric Gastrointestinal Endoscopy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::05b044854ac72dfb3aeb16717720a3b2
https://doi.org/10.1002/9781119423492.ch31
https://doi.org/10.1002/9781119423492.ch31