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| Verfasst von: | Mütze, Ulrike [VerfasserIn]  |
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| | Ottenberger, Alina [VerfasserIn] |
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| | Gleich, Florian [VerfasserIn] |
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| | Maier, Esther M. [VerfasserIn] |
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| | Lindner, Martin [VerfasserIn] |
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| | Husain, Ralf [VerfasserIn] |
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| | Palm, Katja [VerfasserIn] |
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| | Beblo, Skadi [VerfasserIn] |
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| | Freisinger, Peter [VerfasserIn] |
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| | Santer, René [VerfasserIn] |
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| | Thimm, Eva [VerfasserIn] |
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| | Vom Dahl, Stephan [VerfasserIn] |
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| | Weinhold, Natalie [VerfasserIn] |
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| | Grohmann-Held, Karina [VerfasserIn] |
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| | Haase, Claudia [VerfasserIn] |
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| | Hennermann, Julia B. [VerfasserIn] |
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| | Hörbe-Blindt, Alexandra [VerfasserIn] |
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| | Kamrath, Clemens [VerfasserIn] |
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| | Marquardt, Iris [VerfasserIn] |
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| | Marquardt, Thorsten [VerfasserIn] |
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| | Behne, Robert [VerfasserIn] |
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| | Haas, Dorothea [VerfasserIn] |
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| | Spiekerkötter, Ute [VerfasserIn] |
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| | Hoffmann, Georg F. [VerfasserIn] |
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| | Garbade, Sven [VerfasserIn] |
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| | Grünert, Sarah [VerfasserIn] |
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| | Kölker, Stefan [VerfasserIn] |
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| Titel: | Neurological outcome in long-chain hydroxy fatty acid oxidation disorders |
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| Verf.angabe: | 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 |
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| Ausgabe: | Online version of record before inclusion in an issue |
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| E-Jahr: | 2024 |
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| Jahr: | 23 January 2024 |
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| Umfang: | 16 S. |
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| Illustrationen: | Illustrationen |
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| Fussnoten: | Gesehen am 22.03.2024 |
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| Titel Quelle: | Enthalten in: Annals of Clinical and Translational Neurology |
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| Ort Quelle: | Chichester [u.a.] : Wiley, 2013 |
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| Jahr Quelle: | 2024 |
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| Band/Heft Quelle: | (2024), Seite 1-16 |
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| ISSN Quelle: | 2328-9503 |
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| 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 metabolic diseases included in NBS programs worldwide. Methods German national multicenter study of individuals with confirmed LCHAD/MTP deficiency identified by NBS between 1999 and 2020 or selective metabolic screening. Analyses focused on NBS results, confirmatory diagnostics, and long-term clinical outcomes. Results Sixty-seven individuals with LCHAD/MTP deficiency were included in the study, thereof 54 identified by NBS. All screened individuals with LCHAD deficiency survived, but four with MTP deficiency (14.8%) died during the study period. Despite NBS and early treatment neonatal decompensations (28%), symptomatic disease course (94%), later metabolic decompensations (80%), cardiomyopathy (28%), myopathy (82%), hepatopathy (32%), retinopathy (17%), and/or neuropathy (22%) occurred. Hospitalization rates were high (up to a mean of 2.4 times/year). Disease courses in screened individuals with LCHAD and MTP deficiency were similar except for neuropathy, occurring earlier in individuals with MTP deficiency (median 3.9 vs. 11.4 years; p = 0.0447). Achievement of dietary goals decreased with age, from 75% in the first year of life to 12% at age 10, and consensus group recommendations on dietary management were often not achieved. Interpretation While NBS and early treatment result in improved (neonatal) survival, they cannot reliably prevent long-term morbidity in screened individuals with LCHAD/MTP deficiency, highlighting the urgent need of better therapeutic strategies and the development of disease course-altering treatment. |
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| DOI: | doi:10.1002/acn3.52002 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
kostenfrei: Volltext: https://doi.org/10.1002/acn3.52002 |
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| | kostenfrei: Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/acn3.52002 |
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| | DOI: https://doi.org/10.1002/acn3.52002 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| K10plus-PPN: | 188406227X |
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| Verknüpfungen: | → Zeitschrift |
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Neurological outcome in long-chain hydroxy fatty acid oxidation disorders / Mütze, Ulrike [VerfasserIn]; 23 January 2024 (Online-Ressource)
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