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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol 2025 . Driedger, Jan H. \| Schröter, Julian \| PROTECT-Study Group \| Hertzberg, Christoph \| Weschke, Bernhard \| Kaindl, Angela M. \| Lücke, Thomas \| Thiels, Charlotte \| Klotz, Kerstin Alexandra \| Fazeli, Walid \| Rostásy, Kevin \| Wiethoff-Ubrig, Lucia \| Kaiser, Olaf \| Trollmann, Regina \| Mammadova, Dilbar \| Schubert-Bast, Susanne \| Bach, Alexia \| Eckenweiler, Matthias \| Schönberger, Jan \| Martakis, Kyriakos \| Hahn, Andreas \| Brockmann, Knut \| Dreha-Kulaczewski, Steffi \| Weiss, Deike \| Denecke, Jonas \| Muhle, Hiltrud \| Arelin, Maria \| Merkenschlager, Andreas \| Borggräfe, Ingo \| Roser, Timo \| Ebrahimi-Fakhari, Daniel \| Fiedler, Barbara \| Schlump, Jan-Ulrich \| Köster, Ilka \| Korenke, Christoph \| Alber, Michael \| Ruf, Susanne \| Feucht, Martha \| Scholl, Theresa \| Syrbe, Steffen \| Saffari, Afshin	2025		http://purl.org/ontology/bibo/Article
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2 2024 . Vill, Katharina \| Tacke, Moritz \| König, Anna \| Baumann, Matthias \| Baumgartner, Manuela \| Steinbach, Meike \| Bernert, Guenther \| Blaschek, Astrid \| Deschauer, Marcus \| Flotats-Bastardas, Marina \| Friese, Johannes \| Goldbach, Susanne \| Gross, Martin \| Günther, René \| Hahn, Andreas \| Hagenacker, Tim \| Hauser, Erwin \| Horber, Veronka \| Illsinger, Sabine \| Johannsen, Jessika \| Kamm, Christoph \| Koch, Jan C. \| Koelbel, Heike \| Koehler, Cornelia \| Kolzter, Kirsten \| Lochmüller, Hanns \| Ludolph, Albert \| Mensch, Alexander \| Meyer zu Hoerste, Gerd \| Mueller, Monika \| Mueller-Felber, Wolfgang \| Neuwirth, Christoph \| Petri, Susanne \| Probst-Schendzielorz, Kristina \| Pühringer, Manuel \| Steinbach, Robert \| Schara-Schmidt, Ulrike \| Schimmel, Mareike \| Schrank, Bertold \| Schwartz, Oliver \| Schlachter, Kurt \| Schwerin-Nagel, Annette \| Schreiber, Gudrun \| Smitka, Martin \| Topakian, Raffi \| Trollmann, Regina \| Tuerk, Matthias \| Theophil, Manuela \| Rauscher, Christian \| Vorgerd, Mathias \| Walter, Maggie C. \| Weiler, Markus \| Weiss, Claudia \| Wilichowski, Ekkehard \| Wurster, Claudia D. \| Wunderlich, Gilbert \| Zeller, Daniel \| Ziegler, Andreas \| Kirschner, Janbernd \| Pechmann, Astrid \| SMArtCARE study group	2024		http://purl.org/ontology/bibo/Article
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
Plant-based diets and cardiovascular risk factors: a comparison of flexitarians, vegans and omnivores in a cross-sectional study 2024 . Bruns, Anja \| Greupner, Theresa \| Nebl, Josefine \| Hahn, Andreas	2024		http://purl.org/ontology/bibo/Article
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) 2024 . parenti, giancarlo \| Fecarotta, Simona \| Alagia, Marianna \| Attaianese, Federica \| Verde, Alessandra \| Tarallo, Antonietta \| Gragnaniello, Vincenza \| Ziagaki, Athanasia \| Guimaraes, Maria Jose’ \| Aguiar, Patricio \| Hahn, Andreas \| Azevedo, Olga \| Donati, Maria Alice \| Kiec-Wilk, Beata \| Scarpa, Maurizio \| van der Beek, Nadine A. M. E. \| Del Toro Riera, Mireja \| Germain, Dominique P. \| Huidekoper, Hidde \| van den Hout, Johanna M. P. \| van der Ploeg, Ans T. \| and the MetabERN Subnetwork for Lysosomal Disorders \| Baric, Ivo \| Batzios, Spyros \| Belmatoug, Nadia \| Bordugo, Andrea \| Bosch, Annet M. \| Brassier, Anais \| Burlina, Alberto \| Cassiman, David \| Chabrol, Brigitte \| Chronopoulou, Efstathia \| Couce-Pico, Maria Luz \| Darin, Niklas \| Das, Anibh M. \| Debray, Francois G. \| Deegan, Patrick \| de Abreu Freire Diogo Matos, Luisa M. \| De Las Heras Montero, Javier \| Di Rocco, Maja \| Dobbelaere, Dries \| Eyskens, Francois \| Ferreira, Ana \| Gaspar, Ana M. \| Gasperini, Serena \| López, Antonio González-Meneses \| Grosso, Salvatore \| Guffon-Fouilhoux, Nathalie \| Hennermann, Julia \| Hiwot, Tarekegn G. \| Jones, Simon \| Kingma, Sandra \| Komninaka, Veroniki \| Martín-Hernández, Elena \| Martins, Esmeralda \| Miclea, Diana \| Pfliegler, György \| Rodrigues, Esmeralda \| Rokicki, Dariusz \| Roland, Dominique \| Rutsch, Frank \| Salviati, Alessandro \| Tournev, Ivailo \| Ullrich, Kurt \| van Hasselt, Peter M. \| Vijay, Suresh \| Weinhold, Natalie \| Witters, Peter \| Zeman, Jiri	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
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders 2024 . Park, Julien H. \| Bremova-Ertl, Tatiana \| Brands, Marion \| Foltan, Tomas \| Gautschi, Matthias \| Gissen, Paul \| Hahn, Andreas \| Jones, Simon \| Arash-Kaps, Laila \| Kolnikova, Miriam \| Patterson, Marc \| Perlman, Susan \| Ramaswami, Uma \| Reichmannová, Stella \| Rohrbach, Marianne \| Schneider, Susanne A. \| Shaikh, Aasef \| Sivananthan, Siyamini \| Synofzik, Matthis \| Walterfarng, Mark \| Wibawa, Pierre \| Martakis, Kyriakos \| Manto, Mario	2024		http://purl.org/ontology/bibo/Article
A micronutrient supplement modulates homocysteine levels regardless of vitamin B biostatus in elderly subjects 2023 . Savic-Hartwig, Marija \| Kerlikowsky, Felix \| van de Flierdt, Edda \| Hahn, Andreas \| Schuchardt, Jan Philipp	2023		http://purl.org/ontology/bibo/Article
Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients’ Perspectives 2021 . Willems, Laurent M. \| Rosenow, Felix \| Schubert-Bast, Susanne \| Kurlemann, Gerhard \| Zöllner, Johann Philipp \| Bast, Thomas \| Bertsche, Astrid \| Bettendorf, Ulrich \| Ebrahimi-Fakhari, Daniel \| Grau, Janina \| Hahn, Andreas \| Hartmann, Hans \| Hertzberg, Christoph \| Hornemann, Frauke \| Immisch, Ilka \| Jacobs, Julia \| Klein, Karl Martin \| Klotz, Kerstin A. \| Kluger, Gerhard \| Knake, Susanne \| Knuf, Markus \| Marquard, Klaus \| Mayer, Thomas \| Meyer, Sascha \| Muhle, Hiltrud \| Müller-Schlüter, Karen \| von Podewils, Felix \| Ruf, Susanne \| Sauter, Matthias \| Schäfer, Hannah \| Schlump, Jan-Ulrich \| Syrbe, Steffen \| Thiels, Charlotte \| Trollmann, Regina \| Wiemer-Kruel, Adelheid \| Wilken, Bernd \| Zukunft, Bianca \| Strzelczyk, Adam	2021		http://purl.org/ontology/bibo/Article

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