Zobrazeno 1 - 10
of 175
pro vyhledávání: '"Jürgen G. Okun"'
Autor:
Gwendolyn Gramer, Saskia B. Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G. Okun, Holger Prokisch, Thomas Meitinger, Georg F. Hoffmann
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 17 (2024)
Newborn screening (NBS) for hepatorenal tyrosinemia type I (HT1) based on a determination of succinylacetone is performed in countries worldwide. Recently, biallelic pathogenic variants in GSTZ1 underlying maleylacetoacetate isomerase (MAAI) deficien
Externí odkaz:
https://doaj.org/article/3fbaeff2f15a418bae817fb842064df4
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:
Pia Maier, Sumathy Jeyaweerasinkam, Janina Eberhard, Lina Soueidan, Susanne Hämmerling, Dirk Kohlmüller, Patrik Feyh, Gwendolyn Gramer, Sven F. Garbade, Georg F. Hoffmann, Jürgen G. Okun, Olaf Sommerburg
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 5 (2024)
Newborn screening (NBS) for cystic fibrosis (CF) based on pancreatitis-associated protein (PAP) has been performed for several years. While some influencing factors are known, there is currently a lack of information on the influence of seasonal temp
Externí odkaz:
https://doaj.org/article/e0c6ae699db647dfb9155aa3279b50db
Autor:
Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Sebastian Wirsching, Beate K. Straub, Jana Hauke, Jürgen G. Okun, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 26, Iss , Pp 294-308 (2022)
Hereditary tyrosinemia type 1 is an inborn error of amino acid metabolism characterized by deficiency of fumarylacetoacetate hydrolase (FAH). Only limited treatment options (e.g., oral nitisinone) are available. Patients must adhere to a strict diet
Externí odkaz:
https://doaj.org/article/c558916830de456c8e082c476d56542c
Autor:
Solomon A. Sowah, Alessio Milanese, Ruth Schübel, Jakob Wirbel, Ece Kartal, Theron S. Johnson, Frank Hirche, Mirja Grafetstätter, Tobias Nonnenmacher, Romy Kirsten, Marina López-Nogueroles, Agustín Lahoz, Kathrin V. Schwarz, Jürgen G. Okun, Cornelia M. Ulrich, Johanna Nattenmüller, Arnold von Eckardstein, Daniel Müller, Gabriele I. Stangl, Rudolf Kaaks, Tilman Kühn, Georg Zeller
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-21 (2022)
Abstract Background The gut microbiota has been suggested to play a significant role in the development of overweight and obesity. However, the effects of calorie restriction on gut microbiota of overweight and obese adults, especially over longer du
Externí odkaz:
https://doaj.org/article/b2a9d6f5ed5d4fb9a3a65f3eb76bef31
Autor:
Lucia Laugwitz, Laimdota Zizmare, Vidiyaah Santhanakumaran, Claire Cannet, Judith Böhringer, Jürgen G. Okun, Manfred Spraul, Ingeborg Krägeloh‐Mann, Samuel Groeschel, Christoph Trautwein
Publikováno v:
JIMD Reports, Vol 63, Iss 2, Pp 168-180 (2022)
Abstract Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a deficiency of the arylsulfatase A (ARSA). ARSA deficiency leads to an accumulation of sulfatides primarily in the nervous system ultimately causing demyelination.
Externí odkaz:
https://doaj.org/article/0f1efdd0ccc549398ca53844ee8f0043
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:
Afshin Saffari, Claire Cannet, Astrid Blaschek, Andreas Hahn, Georg F. Hoffmann, Jessika Johannsen, Romy Kirsten, Musa Kockaya, Stefan Kölker, Wolfgang Müller-Felber, Andreas Roos, Hartmut Schäfer, Ulrike Schara, Manfred Spraul, Friedrich K. Trefz, Katharina Vill, Wolfgang Wick, Markus Weiler, Jürgen G. Okun, Andreas Ziegler
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)
Abstract Background 5q spinal muscular atrophy (SMA) is a disabling and life-limiting neuromuscular disease. In recent years, novel therapies have shown to improve clinical outcomes. Yet, the absence of reliable biomarkers renders clinical assessment
Externí odkaz:
https://doaj.org/article/d1420f1c464d4e51b184e3fd1fc57e55
Autor:
Carla Carducci, Wajdi Amayreh, Haneen Ababneh, Amjad Mahasneh, Buthaina Al Rababah, Kefah Al Qaqa, Momen Al Aqeel, Cristiana Artiola, Manuela Tolve, Sirio D'Amici, Nan Shen, Yongguo Yu, Alicia Hillert, Nastassja Himmelreich, Jürgen G. Okun, Georg F. Hoffmann, Nenad Blau
Publikováno v:
JIMD Reports, Vol 55, Iss 1, Pp 59-67 (2020)
Abstract Background Information regarding the prevalence of PKU in the Middle East in comparison to other world regions is scarce, which might be explained by difficulties in the implementation of national newborn screening programs. Objective This s
Externí odkaz:
https://doaj.org/article/43be0f31bdd2473da1912c53a72e3ee9
Autor:
Gustavo A. Bezerra, William R. Foster, Henry J. Bailey, Kevin G. Hicks, Sven W. Sauer, Bianca Dimitrov, Thomas J. McCorvie, Jürgen G. Okun, Jared Rutter, Stefan Kölker, Wyatt W. Yue
Publikováno v:
IUCrJ, Vol 7, Iss 4, Pp 693-706 (2020)
DHTKD1 is a lesser-studied E1 enzyme among the family of 2-oxoacid dehydrogenases. In complex with E2 (dihydrolipoamide succinyltransferase, DLST) and E3 (dihydrolipoamide dehydrogenase, DLD) components, DHTKD1 is involved in lysine and tryptophan ca
Externí odkaz:
https://doaj.org/article/f5c7b911e55a49b5ba415171e6dd2ab1