Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Heiko Billing"'
Autor:
Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B. Haack, Iciar Sanchez-Albisua, Ludger Schöls, Henk J. Blom, Matthis Synofzik
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-4 (2017)
Abstract Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal-recessive mitochondrial disorder caused by TYMP mutations presenting with a multisystemic, often lethal syndrome of progressive leukoencephalopathy, ophthalmo
Externí odkaz:
https://doaj.org/article/593a5f5a77df48a894a513cc7e594bc3
Autor:
Anne Christians, Esra Kesdiren, Imke Hennies, Alejandro Hofmann, Mark-Oliver Trowe, Frank Brand, Helge Martens, Ann Christin Gjerstad, Zoran Gucev, Matthias Zirngibl, Robert Geffers, Tomáš Seeman, Heiko Billing, Anna Bjerre, Velibor Tasic, Andreas Kispert, Benno Ure, Dieter Haffner, Jens Dingemann, Ruthild G. Weber
Publikováno v:
Human Genetics. 142:73-88
Most patients with congenital anomalies of the kidney and urinary tract (CAKUT) remain genetically unexplained. In search of novel genes associated with CAKUT in humans, we applied whole-exome sequencing in a patient with kidney, anorectal, spinal, a
Autor:
Heiko Billing, Henry Fehrenbach, Günter Klaus, Rainer Büscher, Christina Taylan, Sarah Thys, Bettina Schaar, Ingrid Becker, Carmen Montoya, Claus Peter Schmitt, Simone Wygoda, Anne Adams, Bernd Hoppe, Martin Pohl, Markus Feldkötter, Raphael Schild, Martin Konrad, Lars Pape
Publikováno v:
Pediatric Nephrology (Berlin, Germany)
Objective Pediatric patients spend significant time on maintenance hemodialysis (HD) and traveling. They are often not capable of participating in sports activities. To assess the effects of exercise training during HD on dialysis efficacy in childre
Autor:
Karsten Häffner, Heiko Billing, Jens König, Bärbel Lange Sperandio, Matthias Hansen, Martin Bald, Imke Hennies, Tobias Vinke, Christopher Gerken, Martin Pohl, Charlotte Gimpel, Verena Klämbt, Carmen Montoya, Sebastian Loos, Martin Kirschstein
Publikováno v:
Pediatric Nephrology (Berlin, Germany)
Background Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening microangiopathy, frequently causing kidney failure. Inhibition of the terminal complement complex with eculizumab is the only licensed treatment but mostly requires long
Autor:
Christina Nießl, Anne-Laure Boulesteix, Jun Oh, Katja Palm, Peter Schlingmann, Simone Wygoda, Dieter Haffner, Elke Wühl, Burkhard Tönshoff, Anja Buescher, Heiko Billing, Bernd Hoppe, Matthias Zirngibl, Matthias Kettwig, Kristina Moeller, Birgit Acham-Roschitz, Klaus Arbeiter, Martin Bald, Marcus Benz, Matthias Galiano, Ulrike John-Kroegel, Guenter Klaus, Daniela Marx-Berger, Katja Moser, Dirk Mueller, Ludwig Patzer, Martin Pohl, Barbara Seitz, Ulrike Treikauskas, Rodo O. von Vigier, William Allen Gahl, Katharina Hohenfellner
Infantile nephropathic cystinosis, due to impaired transport of cystine out of lysosomes, occurs with an incidence of 1 in 100–200,000 live births. It is characterized by renal Fanconi syndrome in the first year of life and glomerular dysfunction p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f153907d5bb7c1cde126a1c1be60a4b3
https://www.ncbi.nlm.nih.gov/pubmed/35835062
https://www.ncbi.nlm.nih.gov/pubmed/35835062
Autor:
Rika Kluck, Sophia Müller, Celina Jagodzinski, Katharina Hohenfellner, Anja Büscher, Markus J. Kemper, Jun Oh, Heiko Billing, Julia Thumfart, Lutz T. Weber, Birgit Acham‐Roschitz, Klaus Arbeiter, Burkhard Tönshoff, Martina Hagenberg, Nele Kanzelmeyer, Leo Pavičić, Dieter Haffner, Miroslav Zivicnjak
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 45(2)
Children with infantile nephropathic cystinosis (INC), an inherited lysosomal storage disease resulting in cystine accumulation in all body cells, are prone to progressive chronic kidney disease (CKD), impaired growth and reduced weight gain; however
Autor:
Heiko Billing, Franziska Wiese, Ursula Holzer, Rupert Handgretinger, Katharina Reinhardt-Heller, Christian Gille, Natascha Köstlin, Mareike Volz
Publikováno v:
Clinical and Experimental Immunology. 195:369-380
Summary Extracorporeal photopheresis (ECP) is a widely used immunomodulatory therapy for the treatment of various T cell-mediated disorders such as cutaneous T cell lymphoma (CTCL), graft-versus-host disease (GvHD) or systemic sclerosis. Although cli
Autor:
Markus Feldkötter, Sarah Thys, Anne Adams, Ingrid Becker, Rainer Büscher, Martin Pohl, Raphael Schild, Lars Pape, Claus Peter Schmitt, Christina Taylan, Simone Wygoda, Günter Klaus, Henry Fehrenbach, Carmen Montoya, Martin Konrad, Heiko Billing, Bettina Schaar, Bernd Hoppe
Publikováno v:
Pediatr Nephrol
Pediatric patients spend significant time on maintenance hemodialysis (HD) and traveling. They are often not capable of participating in sports activities. To assess the effects of exercise training during HD on dialysis efficacy in children and adol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff6fb3f081e281e522aca07e73fe4c7c
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85114597489
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85114597489
Publikováno v:
Pediatric Nephrology (Berlin, Germany)
Seasonal blood pressure (BP) variation is mostly found between the summer and winter months. Guidelines for diagnosis and treatment of hypertension in children have not considered this variation until recently. This review aims to present an overview
Autor:
Anja C. Baur, Jun Oh, Heiko Billing, Dieter Haffner, Birgit Acham-Roschitz, Julia Thumfart, Klaus Arbeiter, Maren Leifheit-Nestler, Anja Büscher, Burkhard Tönshoff, Miroslav Zivicnjak, Annika Ewert, Katharina Hohenfellner, Martina Feger, Lutz T. Weber, Markus J. Kemper, Michael Föller, Gabriele I. Stangl
Publikováno v:
The Journal of clinical endocrinology and metabolism. 105(8)
Context Children with nephropathic cystinosis (NC) show persistent hypophosphatemia, due to Fanconi syndrome, as well as mineral and bone disorders related to chronic kidney disease (CKD); however, systematic analyses are lacking. Objective To compar