Zobrazeno 1 - 10
of 90
pro vyhledávání: '"Enke Grabhorn"'
Autor:
Antoine Gardin, Mathias Ruiz, Jan Beime, Mara Cananzi, Margarete Rathert, Barbara Rohmer, Enke Grabhorn, Marion Almes, Veena Logarajah, Luis Peña-Quintana, Thomas Casswall, Amaria Darmellah-Remil, Ana Reyes-Domínguez, Emna Barkaoui, Loreto Hierro, Carolina Baquero-Montoya, Ulrich Baumann, Björn Fischler, Emmanuel Gonzales, Anne Davit-Spraul, Sophie Laplanche, Emmanuel Jacquemin
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Oral cholic acid therapy is an effective therapy in children with primary bile acid synthesis deficiencies. Most reported patients with this treatment have 3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency. The aim of the stud
Externí odkaz:
https://doaj.org/article/41eae146d0e4499ca1d4ba2ff78cac58
Autor:
Jan Stindt, Carola Dröge, Elke Lainka, Simone Kathemann, Eva-Doreen Pfister, Ulrich Baumann, Amelie Stalke, Enke Grabhorn, Mohammad Ali Shagrani, Yael Mozer-Glassberg, Jane Hartley, Marianne Wammers, Caroline Klindt, Paulina Philippski, Roman Liebe, Diran Herebian, Ertan Mayatepek, Thomas Berg, Anjona Schmidt-Choudhury, Constanze Wiek, Helmut Hanenberg, Tom Luedde, Verena Keitel
Publikováno v:
JHEP Reports, Vol 5, Iss 7, Pp 100690- (2023)
Background & Aims: Antibody-induced bile salt export pump deficiency (AIBD) is an acquired form of intrahepatic cholestasis, which may develop following orthotopic liver transplantation (OLT) for progressive familial intrahepatic cholestasis type 2 (
Externí odkaz:
https://doaj.org/article/e0f0ced14a1a400c90fd20022215385d
Autor:
Sebastian Loos, Markus J. Kemper, Kaja Schmaeschke, Uta Herden, Lutz Fischer, Bernd Hoppe, Tanja Kersnik Levart, Enke Grabhorn, Raphael Schild, Jun Oh, Florian Brinkert
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionCombined or sequential liver and kidney transplantation (CLKT/SLKT) restores kidney function and corrects the underlying metabolic defect in children with end-stage kidney disease in primary hyperoxaluria type 1 (PH1). However, data on lo
Externí odkaz:
https://doaj.org/article/cf9534df81774a4598dbda64bb7c5314
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
Mild Crigler–Najjar Syndrome with Progressive Liver Disease—A Multicenter Retrospective Cohort Study
Autor:
Norman Junge, Hanna Hentschel, Dorothee Krebs-Schmitt, Amelie Stalke, Eva-Doreen Pfister, Björn Hartleben, Martin Claßen, Alexander Querfurt, Veronika Münch, Philip Bufler, Jun Oh, Enke Grabhorn
Publikováno v:
Children, Vol 10, Iss 9, p 1431 (2023)
Crigler–Najjar Syndrome (CNS) with residual activity of UDP-glucuronosyltransferase 1A1 (UGT1A1) and no need for daily phototherapy is called mild Crigler–Najjar Syndrome. Most of these patients need medical treatment for enzyme induction (phenob
Externí odkaz:
https://doaj.org/article/020f058aa8284c33b0d8290f19ed74fa
Autor:
Mathis Wehming, Dorothée Krebs-Schmitt, Andrea Briem-Richter, Bianca Hegen, Florian Brinkert, Lutz Fischer, Enke Grabhorn
Publikováno v:
Children, Vol 10, Iss 2, p 367 (2023)
Introduction: Immunosuppression after pediatric liver transplantation remains a major challenge. MTOR inhibitors provide a promising therapeutic approach in combination with reduced CNI after transplantation. However, there are still few data regardi
Externí odkaz:
https://doaj.org/article/3fa21e2b7e5541db86183cfd864af9f1
Autor:
Eva Karbaum, Sören Weidemann, Enke Grabhorn, Lutz Fischer, Uta Herden, Jun Oh, Andrea Briem-Richter, Dorothee Krebs-Schmitt
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 76:627-633
Impact of donor-specific antibodies on long-term graft survival with pediatric liver transplantation
Autor:
Felicitas Leonie Schotters, Uta Herden, Andrea Briem-Richter, Thomas M.C. Binder, Enke Grabhorn, Jan Beime
Publikováno v:
World Journal of Hepatology
BACKGROUND In a previous paper, we reported a high prevalence of donor-specific antibody (DSA) in pediatric patients with chronic rejection and expressed the need for confirmation of these findings in a larger cohort. AIM To clarify the importance of
Autor:
Jochen Herrmann, Philippe Petit, Enke Grabhorn, Alexander Lenz, Julian Jürgens, Stéphanie Franchi-Albella
Publikováno v:
Pediatric radiology.
Liver cirrhosis in children is a rare disease with multifactorial causes that are distinct from those in adults. Underlying reasons include cholestatic, viral, autoimmune, hereditary, metabolic and cardiac disorders. Early detection of fibrosis is im
Publikováno v:
Pediatric Gastroenterology, Hepatology & Nutrition
Infantile hepatic hemangioma, the most common vascular tumor of the liver in infancy, can occur with acute postnatal liver and congestive heart failure. Nevertheless, its course is often benign, and many children can be diagnosed and treated without