نتائج البحث - Martin Magner

Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C حسب Veronika Dvorakova, Martin Magner, Tomas Honzik

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Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review حسب Lorena Diaz-Ordoñez, Estephania Candelo, Katherine Silva-Cuero, Wilmar Saldarriaga, Lenka Murgašová, Martin Magner, Harry Pachajoa

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Mucopolysaccharidosis type IVA and severe hidradenitis suppurativa: A case series حسب Jorga Fialová, MD, Martina Kojanová, MD, PhD, Robert Šáhó, MD, Martin Magner, MD, PhD

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Transient Hyperphosphatasemia in a Child with Autism Spectrum Disorder حسب Štěpán Kutílek, Eva Rondziková-Mlynarčíková, Kamila Pečenková, Richard Pikner, Toáš Šmída, Eva Sládková, Tomáš Honzík, Eva Sládková, Martin Magner

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Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries حسب Martin Magner, Zsuzsanna Almássy, Zoran Gucev, Beata Kieć-Wilk, Vasilica Plaiasu, Anna Tylki-Szymańska, Dimitrios Zafeiriou, Ioannis Zaganas, Christina Lampe

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Factors Influencing Sulforaphane Content in Broccoli Sprouts and Subsequent Sulforaphane Extraction حسب Jan Tříska, Josef Balík, Milan Houška, Pavla Novotná, Martin Magner, Naděžda Vrchotová, Pavel Híc, Ladislav Jílek, Kateřina Thorová, Petr Šnurkovič, Ivo Soural

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P244: Clinical profiles of 134 patients with alpha-mannosidosis from the velmanase alfa clinical program and SPARKLE registry حسب Heather Morgan, Nicole Muschol, Julia Hennermann, Martin Magner, Christina Lampe, Monica Lopez-Rodriguez, Katarína Juríčková, Daniela Garavaglia, Chiara Donati, Vito Fichera, Nathalie Guffon

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The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions حسب Nicole Anteneová, Silvie Kelifová, Hana Kolářová, Alžběta Vondráčková, Iveta Tóthová, Petra Lišková, Martin Magner, Josef Zámečník, Hana Hansíková, Jiří Zeman, Markéta Tesařová, Tomáš Honzík

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B cell phenotype and serum levels of interferons, BAFF, and APRIL in multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C) حسب Adam Klocperk, Marketa Bloomfield, Zuzana Parackova, Ludovic Aillot, Jiri Fremuth, Lumir Sasek, Jan David, Filip Fencl, Aneta Skotnicova, Katerina Rejlova, Martin Magner, Ondrej Hrusak, Anna Sediva

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Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey حسب Karolina M. Stepien, Sophie Thomas, Julia B. Hennermann, Christina Lampe, Nicole M. Muschol, Maria Juliana Ballesta-Martínez, Jordi Cruz, Mónica López-Rodríguez, Anneliese Barth, Martin Magner, Allan M. Lund, Vasilica Plaiasu, Andrea Ballabeni, Francesca Donà, Heather M. Morgan, Nathalie Guffon

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P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis حسب Can Ficicioglu, Nicole Muschol, Barbara Burton, Martin Magner, Mercedes Gil-Campos, Monica Lopez Rodriguez, Parul Jayakar, Allan Lund, Galit Tal, Jose Elias Garcia-Ortiz, Karolina Stepien, Carolyn Ellaway, Walla Al-Hertani, Roberto Giugliani, Sara Cathey, Julia Hennermann, Christina Lampe, Markey McNutt, Florian Lagler, Maurizio Scarpa, Vernon Sutton, Nathalie Guffon

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