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5 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers 2024 . Truninger, Moritz Ilan \| Werner, Helene \| Landolt, Markus \| Hahn, Andreas \| Hennermann, Julia B. \| Lagler, Florian B. \| Möslinger, Dorothea \| Pfrimmer, Charlotte \| Rohrbach, Marianne \| Huemer, Martina	2024		http://purl.org/ontology/bibo/Article
Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening 2024 . Trollmann, Regina \| Johannsen, Jessika \| Vill, Katharina \| Köhler, Cornelia \| Hahn, Andreas \| Illsinger, Sabine \| Pechmann, Astrid \| Hagen, Maja von der \| Müller-Felber, Wolfgang	2024		http://purl.org/ontology/bibo/Article
Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS®) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data 2024 . Kishnani, Priya S. \| Shohet, Simon \| Raza, Syed \| Hummel, Noemi \| Castelli, Jeffrey P. \| Sitaraman Das, Sheela \| Jiang, Heng \| Kopiec, Agnieszka \| Keyzor, Ian \| Hahn, Andreas	2024		http://purl.org/ontology/bibo/Article
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study 2021 . Grau, Janina \| Zöllner, Johann Philipp \| Schubert-Bast, Susanne \| Kurlemann, Gerhard \| Hertzberg, Christoph \| Wiemer-Kruel, Adelheid \| Bast, Thomas \| Bertsche, Astrid \| Bettendorf, Ulrich \| Fiedler, Barbara \| Hahn, Andreas \| Hartmann, Hans \| Hornemann, Frauke \| Immisch, Ilka \| Jacobs, Julia \| Kieslich, Matthias \| Klein, Karl Martin \| Klotz, Kerstin A. \| Kluger, Gerhard \| Knuf, Markus \| Mayer, Thomas \| Marquard, Klaus \| Meyer, Sascha \| Muhle, Hiltrud \| Müller-Schlüter, Karen \| Noda, Anna H. \| Ruf, Susanne \| Sauter, Matthias \| Schlump, Jan-Ulrich \| Syrbe, Steffen \| Thiels, Charlotte \| Trollmann, Regina \| Wilken, Bernd \| Willems, Laurent M. \| Rosenow, Felix \| Strzelczyk, Adam	2021		http://purl.org/ontology/bibo/Article
1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy 2021 . Saffari, Afshin \| Cannet, Claire \| Blaschek, Astrid \| Hahn, Andreas \| Hoffmann, Georg F. \| Johannsen, Jessika \| Kirsten, Romy \| Kockaya, Musa \| Kölker, Stefan \| Müller-Felber, Wolfgang \| Roos, Andreas \| Schäfer, Hartmut \| Schara, Ulrike \| Spraul, Manfred \| Trefz, Friedrich K. \| Vill, Katharina \| Wick, Wolfgang \| Weiler, Markus \| Okun, Jürgen G. \| Ziegler, Andreas	2021		http://purl.org/ontology/bibo/Article