Resultados da busca - Martin Magner

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

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Searching for COVID-19 Antibodies in Czech Children—A Needle in the Haystack por Marketa Bloomfield, Marketa Bloomfield, Iva Pospisilova, Iva Pospisilova, Tamara Cabelova, Anna Sediva, Marketa Ibrahimova, Klara Borecka, Martin Magner, Martin Magner

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The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families por Jitka Jirečková, Martin Magner, Lukáš Lambert, Alice Baxová, Alena Leiská, Lenka Kopečková, Lenka Fajkusová, Jiří Zeman

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Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review por 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 por 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 por 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 por 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 por 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 por 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 por 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) por 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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Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS) por Karolina M. Stepien, Barbara K. Burton, Michael B. Bober, Philippe M. Campeau, Carolyn Ellaway, Kaustuv Bhattacharya, Nathalie Guffon, David Hinds, Abigail Hunt, Alice Lail, Shuan-Pei Lin, Martin Magner, Elaine Murphy, Pascal Reisewitz, John J. Mitchell

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Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries por Martin Magner, Robert Šáhó, Petra Slavíková, Radovan Bakaľár, Lenka Dvořáková, Karolína Pešková, Danijela Petković Ramadža, Ivo Barić, Nikola Ilic, Anna Čechová, Martin Řeboun, Hana Vlášková, Silvie Kelifová, Pavel Ješina, Dagmar Procházková, Hana Hansíková, Tomáš Honzík, Jiří Zeman

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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 por 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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The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers por Anna Tylki-Szymańska, Zsuzsanna Almássy, Violetta Christophidou-Anastasiadou, Daniela Avdjieva-Tzavella, Ingeborg Barisic, Rimante Cerkauskiene, Goran Cuturilo, Maja Djiordjevic, Zoran Gucev, Anna Hlavata, Beata Kieć-Wilk, Martin Magner, Ivan Pecin, Vasilica Plaiasu, Mira Samardzic, Dimitrios Zafeiriou, Ioannis Zaganas, Christina Lampe

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P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis por 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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