Concepedia
4
Publications
93
Citations
H-Index
2021
Active since
Affiliations
Paracelsus Medical University(Current)
Radboud University Nijmegen
Radboud University Medical Center
Amalia Kinderziekenhuis
Inserm
Melanie T. Achleitner is an author at Paracelsus Medical University.
Publications per year
2021–2023
Variants in Mitochondrial <scp>ATP</scp> Synthase Cause Variable Neurologic Phenotypes
Michael Zech, Robert Kopajtich, Katja Steinbrücker et al. · Annals of Neurology · 2021 · 40 citations · Full text
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Anne Guimier, Melanie T. Achleitner, Anne Moreau de Bellaing et al. · Genetics in Medicine · 2021 · 24 citations · Full text
Pathogenic variants in<i>GCSH</i>encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
Laura Arribas‐Carreira, Cristina Dallabona, Michael A. Swanson et al. · Human Molecular Genetics · 2022 · 16 citations · Full text
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine
Susanne L. Oswald, Katja Steinbrücker, Melanie T. Achleitner et al. · Neuropediatrics · 2023 · 13 citations · Full text
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