Mirian Janssen

基本信息

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职业迁徙

个人简介

She has extensive expertise in the diagnosis and treatment of metabolic diseases, in particular mitochondrial diseases, glycosylation disorders and cystinosis. Dr Janssen is involved in natural history studies and several clinical trials for patients with mitochondrial diseases.

研究兴趣

论文共 212 篇作者统计合作学者相似作者

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The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report from the SSIEM Adult Metabolic Physicians Group

Michel Tchan,Anna Lehman,Laura van Dussen,Janneke G Langendonk,Mirian C H Janssen,Mirjam Langeveld,Elaine Murphy,Bryony Ryder,Emma Glamuzina,Martin Merkel,Annalisa Sechi,Jean-Baptiste Arnoux, Fanny Mochel, Gonnie Alkemade,Francois Maillot,Elsa Kaphan,Karin Mazodier,Quentin Thomas,Vanessa Leguy-Seguin,Cecilia Marelli

Journal of inherited metabolic diseaseno. 2 (2025): e70005-e70005

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Phase 2b Program with Sonlicromanol in Patients with Mitochondrial Disease Due to M.3243a>g Mutation

Jan Smeitink, Just van Es, Brigitte Bosman,Mirian C. H. Janssen,Thomas Klopstock, Grainne Gorman,John Vissing,Gerrit Ruiterkamp,Chris J. Edgar,Evertine J. Abbink,Rob van Maanen, Oksana Pogoryelova,Claudia Stendel, Almut Bischoff,Ivan Karin, Mahtab Munshi,Anne Kummel, Lydia Burgert,Christianne Verhaak,Herma Renkema

BRAIN (2025)

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Goal Attainment in PMM2-CDG: A New Approach Measuring Meaningful Clinical Outcomes

Sanne Verberkmoes,Gina L Mazza,Andrew C Edmondson,Fernando Scaglia, Seishu Horikoshi, Bryce Kuschel,Mirian C H Janssen,Jehan Mousa,Austin Larson,Rameen Shah, Georgia McDonald,Kyriaki Sarafoglou,Gerard Berry,Tamas Kozicz,Christina Lam,Eva Morava

Molecular genetics and metabolism（2025）

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VACCINE SAFETY IN CHILDREN WITH GENETICALLY CONFIRMED MITOCHONDRIAL DISEASE

Annemarie de Vreugd, Franz A. Zimmermann,Katja Steinbruecker,Maaike C. de Vries,Lonneke de Boer,Mirian C. H. Janssen,Martina Huemer,Saskia B. Wortmann

Immunology letters (2024): 106946-106946

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Feasibility, Safety, and Efficacy of a Ketogenic Diet in Patients with Mitochondrial Myopathy

Heidi Zweers-van Essen, Gijsje Beerink, Elke Buit, Karlijn Gerrits, Astrid Dorhout, Sophie Kroesen, Annemiek van Wegberg,Mirian Janssen, Saskia Wortmann,Silvie Timmers,Christiaan Saris

crossref（2024）

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Impact of Theta Transcranial Alternating Current Stimulation on Language Production in Adult Classic Galactosemia Patients