Novel Mutations in the TAZ Gene in Patients with Barth Syndrome
2013 · Prague Medical Report · 18 citations
https://doi.org/10.14712/23362936.2014.16
M
Martin Magner
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Martin Magner is an academic researcher from Charles University. The author has contributed to research in topics: Lysosomal Storage Disorders Research & Metabolism and Genetic Disorders & Mitochondrial Function and Pathology. The author has an h-index of 23, co-authored 97 publications.
ORCID: 0000-0002-5883-9509Papers by this author
worksThe Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families
2018 · Prague Medical Report · 10 citations
https://doi.org/10.14712/23362936.2019.3
Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries
2022 · Orphanet Journal of Rare Diseases · 6 citations
https://doi.org/10.1186/s13023-022-02332-7
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study
2024 · Molecular Genetics and Metabolism · 5 citations
https://doi.org/10.1016/j.ymgme.2024.108519
Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C
2014 · Molecular Genetics and Metabolism Reports · 1 citations
https://doi.org/10.1016/j.ymgmr.2014.12.002
Clinical profiles of 134 patients with alpha-mannosidosis from the velmanase alfa clinical program and SPARKLE registry
2025 · Molecular Genetics and Metabolism · 0 citations
https://doi.org/10.1016/j.ymgme.2024.108867
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