Zobrazeno 1 - 10
of 196
pro vyhledávání: '"Manfred Spraul"'
Autor:
Rubén Gil-Redondo, Ricardo Conde, Chiara Bruzzone, Maria Luisa Seco, Maider Bizkarguenaga, Beatriz González-Valle, Angela de Diego, Ana Laín, Hansjörg Habisch, Christoph Haudum, Nicolas Verheyen, Barbara Obermayer-Pietsch, Sara Margarita, Serena Pelusi, Ignacio Verde, Nádia Oliveira, Adriana Sousa, Amaia Zabala-Letona, Aida Santos-Martin, Ana Loizaga-Iriarte, Miguel Unda-Urzaiz, Jasmin Kazenwadel, Georgy Berezhnoy, Tobias Geisler, Meinrad Gawaz, Claire Cannet, Hartmut Schäfer, Tammo Diercks, Christoph Trautwein, Arkaitz Carracedo, Tobias Madl, Luca Valenti, Manfred Spraul, Shelly C. Lu, Nieves Embade, José M. Mato, Oscar Millet
Publikováno v:
Cardiovascular Diabetology, Vol 23, Iss 1, Pp 1-13 (2024)
Abstract Background Metabolic syndrome (MetS) is a cluster of medical conditions and risk factors correlating with insulin resistance that increase the risk of developing cardiometabolic health problems. The specific criteria for diagnosing MetS vary
Externí odkaz:
https://doaj.org/article/0f7d4a04add1447884a54f4d9ce65b6c
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:
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:
Samantha Lodge, Nathan G. Lawler, Nicola Gray, Reika Masuda, Philipp Nitschke, Luke Whiley, Sze-How Bong, Bu B. Yeap, Girish Dwivedi, Manfred Spraul, Hartmut Schaefer, Rubén Gil-Redondo, Nieves Embade, Oscar Millet, Elaine Holmes, Julien Wist, Jeremy K. Nicholson
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 14, p 11614 (2023)
An integrative multi-modal metabolic phenotyping model was developed to assess the systemic plasma sequelae of SARS-CoV-2 (rRT-PCR positive) induced COVID-19 disease in patients with different respiratory severity levels. Plasma samples from 306 unva
Externí odkaz:
https://doaj.org/article/b16af06b3b43448295c5a08e4aba1177
Autor:
Claire Cannet, Allan Bayat, Georg Frauendienst-Egger, Peter Freisinger, Manfred Spraul, Nastassja Himmelreich, Musa Kockaya, Kirsten Ahring, Markus Godejohann, Anita MacDonald, Friedrich Trefz
Publikováno v:
Molecules, Vol 28, Iss 13, p 4916 (2023)
Phenylketonuria (PKU) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase gene. Depending on the severity of the genetic mutation, medical treatment, and patient dietary management, elevated phenylalanine (Phe) may occur
Externí odkaz:
https://doaj.org/article/79d4e93690414af8a5b7ad7677919e00
Autor:
Chiara Bruzzone, Rubén Gil-Redondo, Marisa Seco, Rocío Barragán, Laura de la Cruz, Claire Cannet, Hartmut Schäfer, Fang Fang, Tammo Diercks, Maider Bizkarguenaga, Beatriz González-Valle, Ana Laín, Arantza Sanz-Parra, Oscar Coltell, Ander López de Letona, Manfred Spraul, Shelly C. Lu, Elisabetta Buguianesi, Nieves Embade, Quentin M. Anstee, Dolores Corella, José M. Mato, Oscar Millet
Publikováno v:
Cardiovascular Diabetology, Vol 20, Iss 1, Pp 1-13 (2021)
Abstract Background Metabolic syndrome (MetS) is a multimorbid long-term condition without consensual medical definition and a diagnostic based on compatible symptomatology. Here we have investigated the molecular signature of MetS in urine. Methods
Externí odkaz:
https://doaj.org/article/fdd2825fb92b43c38b52b9294746026e
Autor:
Claire Cannet, Andrea Pilotto, Júlio César Rocha, Hartmut Schäfer, Manfred Spraul, Daniela Berg, Peter Nawroth, Christian Kasperk, Gwendolyn Gramer, Dorothea Haas, David Piel, Stefan Kölker, Georg Hoffmann, Peter Freisinger, Friedrich Trefz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Abstract Background Phenylketonuria (PKU; OMIM#261600) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene resulting in high phenylalanine (Phe) in blood and brain. If not treated early this results in intelle
Externí odkaz:
https://doaj.org/article/8b6f46eb86264e03ba005cf5a9db5cf9
Autor:
Rubén Gil-Redondo, Ricardo Conde, Maider Bizkarguenaga, Chiara Bruzzone, Ana Laín, Beatriz González-Valle, Milagros Iriberri, Carlos Ramos-Acosta, Eduardo Anguita, Juan Ignacio Arriaga Lariz, Pedro Pablo España Yandiola, Miguel Ángel Moran, Mario Ernesto Jiménez-Mercado, Leire Egia-Mendikute, María Luisa Seco, Hartmut Schäfer, Claire Cannet, Manfred Spraul, Asís Palazón, Nieves Embade, Shelly C. Lu, Julien Wist, Jeremy K. Nicholson, José M. Mato, Oscar Millet
Publikováno v:
Metabolites, Vol 12, Iss 12, p 1206 (2022)
After SARS-CoV-2 infection, the molecular phenoreversion of the immunological response and its associated metabolic dysregulation are required for a full recovery of the patient. This process is patient-dependent due to the manifold possibilities ind
Externí odkaz:
https://doaj.org/article/fe37ec350d9c413bb4be5f77f4197c58
Autor:
Titus Rössler, Georgy Berezhnoy, Yogesh Singh, Claire Cannet, Tony Reinsperger, Hartmut Schäfer, Manfred Spraul, Manfred Kneilling, Uta Merle, Christoph Trautwein
Publikováno v:
Metabolites, Vol 12, Iss 12, p 1277 (2022)
The complex manifestations of COVID-19 are still not fully decoded on the molecular level. We combined quantitative the nuclear magnetic resonance (NMR) spectroscopy serum analysis of metabolites, lipoproteins and inflammation markers with clinical p
Externí odkaz:
https://doaj.org/article/447a02f4781d49dab5fbbaabada42476
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)
The NMR chemical shifts of a substance in urine strongly depend on the composition of the mixture itself, and this makes automatic assignment for quantification very difficult. Here the authors show the chemical shifts of signals and the concentratio
Externí odkaz:
https://doaj.org/article/db371f65bd494354878bdb612ec3f431