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Mirian Janssen

affiliation not provided to SSRN

  • affiliation not provided to SSRN

SCHOLARLY PAPERS

4

DOWNLOADS

210

TOTAL CITATIONS

0

Scholarly Papers (4)

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1.

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

Number of pages: 18 Posted: 15 Nov 2024
Eva Morava, Sanne Verberkmoes, Gina L. Mazza, Andrew Edmondson, Fernando Scaglia, Seishu Horikoshi, Bryce Kuschel, Mirian Janssen, Jehan Mousa, Austin Larson, Rameen Shah, Georgia McDonald, Kyriakie Sarafoglou, Gerard T. Berry, Tamas Kozicz and Christina Lam
Mayo Clinic, Radboud University Nijmegen, Mayo Clinic, Mayo Clinic, affiliation not provided to SSRN, Seattle Children's Hospital, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, University of Colorado Denver, affiliation not provided to SSRN, Mount Sinai School of Medicine, affiliation not provided to SSRN, Harvard University - Robert’s Program for Sudden Unexpected Death in Pediatrics, Mount Sinai School of Medicine and University of Washington
Downloads 84 (803,225)

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Goal attainment scaling, Phosphomannomutase, patient reported outcome, genotype-phenotype, Congenital Disorders of Glycosylation

2.

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

Number of pages: 22 Posted: 29 Aug 2024
Heidi Zweers-van Essen, Gijsje Beerink, Elke Buit, Karlijn Gerrits, Astrid Dorhout, Sophie Kroesen, Annemiek van Wegberg, Mirian Janssen, Saskia Wortmann, Silvie Timmers and Christiaan Saris
Radboud University Nijmegen - Radboud University Medical Center, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Paracelsus Medical University Salzburg, affiliation not provided to SSRN and affiliation not provided to SSRN
Downloads 77 (830,555)

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maximal incremental testing, mitochondrial myopathy, mitochondrial DNA deletion, adverse event, modified Atkins diet, ketogenic diet

3.

Gut microbiota dysbiosis in people with mitochondrial disease caused by the m.3243A>G mutation

Number of pages: 27 Posted: 26 Mar 2026
Dave G.J. de Bruijn, Alem Gusinac, Ngoc Le, Purva Kulkarni, Thomas H.A. Ederveen, Rick I. Meijer, Mirian Janssen and Heidi Zweers-van Essen
affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN and Radboud University Nijmegen - Radboud University Medical Center
Downloads 29 (1,424,331)

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mitochondrial disease, m.3243A>G mutation, Gut microbiota, Gastrointestinal complaints, Type 1 diabetes, Maternally Inherited Diabetes and Deafness

4.

Mitopil: Evaluating the Use of Contraceptives in Women with Mitochondrial Disease

Number of pages: 14 Posted: 08 Jul 2025
Annemarie de Vreugd, Amber van Heumen, Alexander Rennings, Saskia Wortmann and Mirian Janssen
affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Paracelsus Medical University Salzburg and affiliation not provided to SSRN
Downloads 20 (1,459,862)

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reproductive health, women`s health, side effects, pill, birth control, treatment, mitochondriopathy, stroke like episode