Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Florian Gleich"'
Autor:
Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Katja Palm, Skadi Beblo, Peter Freisinger, René Santer, Eva Thimm, Stephan vom Dahl, Natalie Weinhold, Karina Grohmann‐Held, Claudia Haase, Julia B. Hennermann, Alexandra Hörbe‐Blindt, Clemens Kamrath, Iris Marquardt, Thorsten Marquardt, Robert Behne, Dorothea Haas, Ute Spiekerkoetter, Georg F. Hoffmann, Sven F. Garbade, Sarah C. Grünert, Stefan Kölker
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 883-898 (2024)
Abstract Objective This study aims to elucidate the long‐term benefit of newborn screening (NBS) for individuals with long‐chain 3‐hydroxy‐acyl‐CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, inherited me
Externí odkaz:
https://doaj.org/article/e200e6208cf9442cbf0392820af77732
Autor:
Svenja Scharre, Roland Posset, Sven F. Garbade, Florian Gleich, Marie J. Seidl, Ann‐Catrin Druck, Jürgen G. Okun, Andrea L. Gropman, Sandesh C. S. Nagamani, Georg F. Hoffmann, Stefan Kölker, Matthias Zielonka, for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 11, Pp 1715-1726 (2022)
Abstract Objective Ornithine transcarbamylase deficiency (OTC‐D) is an X‐linked metabolic disease and the most common urea cycle disorder. Due to high phenotypic heterogeneity, ranging from lethal neonatal hyperammonemic events to moderate sympto
Externí odkaz:
https://doaj.org/article/80a717ca16474543b1d406f7323ea749
Autor:
Elena Schnabel, Stefan Kölker, Florian Gleich, Patrik Feyh, Friederike Hörster, Dorothea Haas, Junmin Fang-Hoffmann, Marina Morath, Gwendolyn Gramer, Wulf Röschinger, Sven F. Garbade, Georg F. Hoffmann, Jürgen G. Okun, Ulrike Mütze
Publikováno v:
Nutrients, Vol 15, Iss 15, p 3355 (2023)
Newborn screening (NBS) programs are effective measures of secondary prevention and have been successively extended. We aimed to evaluate NBS for methylmalonic acidurias, propionic acidemia, homocystinuria, remethylation disorders and neonatal vitami
Externí odkaz:
https://doaj.org/article/aa8f2ef6b3e5476a844a5be0dd529007
Autor:
Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Kathrin Jeltsch, Natalia Juliá-Palacios, Ángels García-Cazorla, Carlo Dionisi-Vici, Stefan Kölker
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases
Externí odkaz:
https://doaj.org/article/dee0fd6aaa314f7da4ba7910516c3f76
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Rare diseases, such as inherited metabolic diseases, have been identified as a health priority within the European Union more than 20 years ago and have become an integral part of EU health programs and European Reference Networks. Having the potenti
Externí odkaz:
https://doaj.org/article/84848e98b7114674a5bef4b3e97c84ae
Autor:
Matthias Zielonka, Stefan Kölker, Florian Gleich, Nicolas Stützenberger, Sandesh C. S. Nagamani, Andrea L. Gropman, Georg F. Hoffmann, Sven F. Garbade, Roland Posset, the Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1858-1871 (2019)
Abstract Objective Citrullinemia type 1 (CTLN1) is an inherited metabolic disease affecting the brain which is detectable by newborn screening. The clinical spectrum is highly variable including individuals with lethal hyperammonemic encephalopathy i
Externí odkaz:
https://doaj.org/article/8228c36ba0fa4c66909c82f77027a6c0
Autor:
Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffmann, Beate Heinrich, Florian Gleich, Sven F. Garbade, On behalf of Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IMD); Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (ESPED); Austrian Metabolic Group; Swiss Paediatric Surveillance Unit (SPSU)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Abstract Background Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease and early death. The
Externí odkaz:
https://doaj.org/article/23370ecb154343929b185a6fd1033613
Publikováno v:
Journal of Inherited Metabolic Disease. 46:391-405
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10a16a3241cbb8fabe86eab24716afe7
https://doi.org/10.1002/jimd.12618
https://doi.org/10.1002/jimd.12618
Autor:
Ulrike Mütze, Sven F. Garbade, Florian Gleich, Martin Lindner, Peter Freisinger, Julia B. Hennermann, Eva Thimm, Gwendolyn Gramer, Roland Posset, Johannes Krämer, Sarah C. Grünert, Georg F. Hoffmann, Stefan Kölker
Publikováno v:
Journal of Inherited Metabolic Disease. 46:15-27
Newborn screening (NBS) for inherited metabolic diseases (IMDs) substantially shortens a patient's journey. It enables the early start of metabolic treatment which might prevent potentially lethal neonatal disease manifestations, while promoting favo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef5b55021716b4b86b6613fe198915e3
https://doi.org/10.1002/jimd.12563
https://doi.org/10.1002/jimd.12563
Autor:
Ulrike Mütze, Florian Gleich, Sven F. Garbade, Céline Plisson, Luis Aldámiz‐Echevarría, Francisco Arrieta, Diana Ballhausen, Matthias Zielonka, Danijela Petković Ramadža, Matthias R. Baumgartner, Aline Cano, María Concepción García Jiménez, Carlo Dionisi‐Vici, Pavel Ješina, Henk J. Blom, Maria Luz Couce, Silvia Meavilla Olivas, Karine Mention, Fanny Mochel, Andrew A. M. Morris, Helen Mundy, Isabelle Redonnet‐Vernhet, Saikat Santra, Manuel Schiff, Aude Servais, Isidro Vitoria, Martina Huemer, Viktor Kožich, Stefan Kölker
Publikováno v:
Journal of Inherited Metabolic Disease, 45(4), 719-733. Springer Netherlands
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Patient registries for rare diseases enable systematic data collection and can also be used to facilitate postauthorization safety studies (PASS) for orphan drugs. This study evaluates the PASS for betaine anhydrous (Cystadane), conducted as public p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b856ecf57728c53d7cca9c359d9feb
https://doi.org/10.1002/jimd.12499
https://doi.org/10.1002/jimd.12499