Zobrazeno 1 - 10
of 182
pro vyhledávání: '"Roderick H J Houwen"'
Autor:
Wendy L van der Woerd, Désirée Y van Haaften-Visser, Stan F J van de Graaf, Claude Férec, Emmanuelle Masson, Janneke M Stapelbroek, Peter Bugert, Heiko Witt, Roderick H J Houwen
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e80553 (2013)
BackgroundMutations in genes encoding cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor (SPINK1) and chymotrypsinogen C (CTRC) are associated with chronic pancreatitis. However, in many patients with a familial chronic pancreatitis
Externí odkaz:
https://doaj.org/article/b90d8d07498a443c93be36298c0f66c2
Autor:
Richard J Thompson, Henrik Arnell, Reha Artan, Ulrich Baumann, Pier Luigi Calvo, Piotr Czubkowski, Buket Dalgic, Lorenzo D'Antiga, Özlem Durmaz, Björn Fischler, Emmanuel Gonzalès, Tassos Grammatikopoulos, Girish Gupte, Winita Hardikar, Roderick H J Houwen, Binita M Kamath, Saul J Karpen, Lise Kjems, Florence Lacaille, Alain Lachaux, Elke Lainka, Cara L Mack, Jan P Mattsson, Patrick McKiernan, Hasan Özen, Sanjay R Rajwal, Bertrand Roquelaure, Mohammad Shagrani, Eyal Shteyer, Nisreen Soufi, Ekkehard Sturm, Mary Elizabeth Tessier, Henkjan J Verkade, Patrick Horn
Publikováno v:
The lancet. Gastroenterology & hepatology, 7(9), 830-842. HANLEY & BELFUS-ELSEVIER INC
Thompson, R J, Arnell, H, Artan, R, Baumann, U, Calvo, P L, Czubkowski, P, Dalgic, B, D'Antiga, L, Durmaz, Ö, Fischler, B, Gonzalès, E, Grammatikopoulos, T, Gupte, G, Hardikar, W, Houwen, R H J, Kamath, B M, Karpen, S J, Kjems, L, Lacaille, F, Lachaux, A, Lainka, E, Mack, C L, Mattsson, J P, McKiernan, P, Özen, H, Rajwal, S R, Roquelaure, B, Shagrani, M, Shteyer, E, Soufi, N, Sturm, E, Tessier, M E, Verkade, H J & Horn, P 2022, ' Odevixibat treatment in progressive familial intrahepatic cholestasis : a randomised, placebo-controlled, phase 3 trial ', The Lancet Gastroenterology & Hepatology . https://doi.org/10.1016/S2468-1253(22)00093-0
Thompson, R J, Arnell, H, Artan, R, Baumann, U, Calvo, P L, Czubkowski, P, Dalgic, B, D'Antiga, L, Durmaz, Ö, Fischler, B, Gonzalès, E, Grammatikopoulos, T, Gupte, G, Hardikar, W, Houwen, R H J, Kamath, B M, Karpen, S J, Kjems, L, Lacaille, F, Lachaux, A, Lainka, E, Mack, C L, Mattsson, J P, McKiernan, P, Özen, H, Rajwal, S R, Roquelaure, B, Shagrani, M, Shteyer, E, Soufi, N, Sturm, E, Tessier, M E, Verkade, H J & Horn, P 2022, ' Odevixibat treatment in progressive familial intrahepatic cholestasis : a randomised, placebo-controlled, phase 3 trial ', The Lancet Gastroenterology & Hepatology . https://doi.org/10.1016/S2468-1253(22)00093-0
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a group of inherited paediatric liver diseases resulting from mutations in genes that impact bile secretion. We aimed to evaluate the effects of odevixibat, an ileal bile acid transp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e8a1a56cdab28cb1e6e0e3bfd44955b
https://doi.org/10.1016/s2468-1253(22)00093-0
https://doi.org/10.1016/s2468-1253(22)00093-0
Autor:
Phi Duong, Remwilyn Dayuha, Roderick H. J. Houwen, Jenny Thies, Christopher J. Collins, Si Houn Hahn, Candace T. Myers, Fan Yi, Sheri A. Poskanzer
Publikováno v:
JIMD Reports
JIMD Reports, Vol 54, Iss 1, Pp 32-36 (2020)
JIMD Reports, Vol 54, Iss 1, Pp 32-36 (2020)
Background Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by inherited defects in the ATP7B gene and results in toxic accumulation of copper in various organs. We previously reported a family with three consecutive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23b956e0924280dcc9a2c988f4758dfc
http://europepmc.org/articles/PMC7358663
http://europepmc.org/articles/PMC7358663
Assessment of human leukocyte antigen matching algorithm PIRCHE-II on liver transplantation outcomes
Autor:
Gautam Kok, Monique M. A. Verstegen, Roderick H. J. Houwen, Edward E. S. Nieuwenhuis, Herold J. Metselaar, Wojciech G. Polak, Luc J. W. van der Laan, Eric Spierings, Caroline M. den Hoed, Sabine A. Fuchs
Publikováno v:
Liver Transplantation, 28(8), 1356-1366. John Wiley & Sons Ltd.
For liver transplantations, human leukocyte antigen (HLA) matching is not routinely performed because observed effects have been inconsistent. Nevertheless, long-term liver transplantation outcomes remain suboptimal. The availability of a more precis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b669fb3f0f0e67b5e6e30880fd726cc
https://pubmed.ncbi.nlm.nih.gov/35152544
https://pubmed.ncbi.nlm.nih.gov/35152544
Autor:
Rolf A. A. Pelleboer, Rob L. H. Janssen, Judith M. Deckers-Kocken, Edward Wouters, Annemieke C. Nissen, Werner E. A. Bolz, Walther E. Tjon A. Ten, Cathelijne van der Feen, Koen J. Oosterhuis, Mechelien H. Rövekamp, Peter G. J. Nikkels, Roderick H. J. Houwen
Publikováno v:
Jornal de Pediatria, Vol 88, Iss 2, Pp 173-176 (2012)
OBJETIVO: Tem sido sugerido que pacientes com constipação sejam triados para doença celíaca. Da mesma forma, recomenda-se a investigação desses pacientes para hipotiroidismo e hipercalcemia. Contudo, nenhuma evidência para essas recomendaçõe
Externí odkaz:
https://doaj.org/article/1b9c050379344052acbbd367b63edc0d
Autor:
Kelly F. Meijsen, Hugo R. de Jonge, Antje Ballauff, Anke H M van Vugt, Roderick H. J. Houwen, Manuel B Bryant, Thomas Müller, Sabine Middendorp, Tanja Restin, Marcel J. C. Bijvelds, Andreas R. Janecke, Bart G. P. Koot
Publikováno v:
Clinical and Translational Gastroenterology, 12(11):e00427. Nature Publishing Group
van Vugt, A H M, Bijvelds, M J C, de Jonge, H R, Meijsen, K F, Restin, T, Bryant, M B, Ballauff, A, Koot, B, Müller, T, Houwen, R H J, Janecke, A R & Middendorp, S 2021, ' A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations ', CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY, vol. 12, no. 11, pp. e00427 . https://doi.org/10.14309/ctg.0000000000000427
Clinical and translational gastroenterology, 12(11). Nature Publishing Group
Clinical and Translational Gastroenterology
CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY, 12(11). Nature Publishing Group
van Vugt, A H M, Bijvelds, M J C, de Jonge, H R, Meijsen, K F, Restin, T, Bryant, M B, Ballauff, A, Koot, B, Müller, T, Houwen, R H J, Janecke, A R & Middendorp, S 2021, ' A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations ', CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY, vol. 12, no. 11, pp. e00427 . https://doi.org/10.14309/ctg.0000000000000427
Clinical and translational gastroenterology, 12(11). Nature Publishing Group
Clinical and Translational Gastroenterology
CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY, 12(11). Nature Publishing Group
INTRODUCTION: Gain-of-function mutations in guanylyl cyclase C (GCC) result in persistent diarrhea with perinatal onset. We investigated a specific GCC inhibitor, SSP2518, for its potential to treat this disorder. METHODS: We investigated the effect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d3192ebcfb634acea304772d3b318e
https://pure.eur.nl/en/publications/476a3967-0cd2-4270-92cc-95c7bcb17260
https://pure.eur.nl/en/publications/476a3967-0cd2-4270-92cc-95c7bcb17260
Autor:
Dian Bolhuis, Remi Stevelink, Eveline Ilcken, Rosalie van Rees, Edward E. S. Nieuwenhuis, Sabine A. Fuchs, Hubert P. J. van der Doef, Sawsan Shehata, Imre F. Schene, Jan Baijens, Indi P. Joore, Jeffrey M. Beekman, Roderick H. J. Houwen, Gautam Kok, Sacha Spelier
Prime editing is a versatile genome-editing technique. However, some genomic sites remain difficult to edit and optimal design of prime-editing tools is elusive. We present a fluorescent prime editing and enrichment reporter (fluoPEER), which can be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7203ea9e76a7bf9888556854b7e5e6f6
https://doi.org/10.21203/rs.3.rs-563512/v1
https://doi.org/10.21203/rs.3.rs-563512/v1
Autor:
Roderick H. J. Houwen, Judith J.M. Jans, Nanda M. Verhoeven-Duif, Esmee Vringer, Peter M. van Hasselt, Lynne Rumping
Publikováno v:
Journal of Inherited Metabolic Disease
Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on genetic defects of enzymes that directly metabolise glutamate, leading to inborn errors of glutamate metabolism. Seventeen genetic defects of glutamate metabolisi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::266885f058d8e7a7a3bcdbfc69c9d93a
https://doi.org/10.1002/jimd.12180
https://doi.org/10.1002/jimd.12180
Autor:
Sjoukje M. Haisma, Roderick H. J. Houwen, Barbara A. E. de Koning, Cyriel I J Ponsioen, Marlou F. M. Sterk, Kim N. van Munster, Bart G. P. Koot, Patrick F. van Rheenen, Maria E. Joosse, Tim G. J. de Meij
Publikováno v:
Liver International, 39(9), 1768-1775. Wiley-Blackwell Publishing Ltd
Liver international, 39(9), 1768-1775. Wiley-Blackwell
Liver International, 39(9), 1768-1775. Wiley
Liver International, 39(9), 1768. Wiley-Blackwell
Liver International, 39(9), 1768-1775. Wiley-Blackwell
Joosse, M E, Haisma, S M, Sterk, M F M, van Munster, K N, Ponsioen, C I J, Houwen, R H J, Koot, B G P, de Meij, T, van Rheenen, P F & de Koning, B A E 2019, ' Disease progression in paediatric-and adult-onset sclerosing cholangitis: Results from two independent Dutch registries ', Liver International, vol. 39, no. 9, pp. 1768-1775 . https://doi.org/10.1111/liv.14159
Liver international, 39(9), 1768-1775. Wiley-Blackwell
Liver International, 39(9), 1768-1775. Wiley
Liver International, 39(9), 1768. Wiley-Blackwell
Liver International, 39(9), 1768-1775. Wiley-Blackwell
Joosse, M E, Haisma, S M, Sterk, M F M, van Munster, K N, Ponsioen, C I J, Houwen, R H J, Koot, B G P, de Meij, T, van Rheenen, P F & de Koning, B A E 2019, ' Disease progression in paediatric-and adult-onset sclerosing cholangitis: Results from two independent Dutch registries ', Liver International, vol. 39, no. 9, pp. 1768-1775 . https://doi.org/10.1111/liv.14159
Background & Aims Sclerosing cholangitis (SC) is a severe liver disease leading to destruction of bile ducts. It is believed to run a milder course in children than in adults. To test this assumption, we evaluated time-to-complication curves in two i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd09a1e413da7d603c1c99b5a349af55
https://doi.org/10.1111/liv.14159
https://doi.org/10.1111/liv.14159
Autor:
Albert Friedrich Stättermayer, Peter Ferenci, Jan Pfeiffenberger, Roderick H. J. Houwen, Tudor Lucian Pop, Elmar Aigner, Wolfgang Stremmel, Rudolf E. Stauber, Radan Bruha, Petra Steindl-Munda, Heinz Zoller, Ferenc Szalay, Cihan Yurdaydin, Anna Członkowska, Hans Peter Dienes, André Viveiros, Karl Heinz Weiss, Michael Gschwantler
Publikováno v:
Hepatology, 69(4), 1464. John Wiley and Sons Ltd
Wilson disease (WD) is an inherited disorder of hepatic copper metabolism with considerable variation in clinical presentations, the most common ones being liver disease and neuropsychiatric disturbances. This study investigated the clinical presenta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0002a2952afcc2d68c7c265b8b1dea9c
https://doi.org/10.1002/hep.30280
https://doi.org/10.1002/hep.30280