Research output per year
Research output per year
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Dive into the research topics where Melanie Achleitner is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
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Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver
Mihaljevic, M., Ramadza, D. P., Zigman, T., Rako, I., Galic, S., Matic, T., Rubic, F., Cagalj, I. C., Mayer, D., Gojevic, A., Cavar, S., Coric, M., Achleitner, M. T. (Co-author), Mayr, J. A. (Co-author), Fumic, K., Vukovic, J. & Baric, I., Sept 2024, In: JIMD REPORTS. 65, 5, p. 323-329 7 p.Research output: Contribution to journal › Case report › peer-review
Open Access -
Missense variants in the TRPMr7 α-kinase domain are associated with recurrent pediatric acute liver failure
Schlieben, L. D., Achleitner, M. T. (Co-author), Bourke, B., Diesner, M., Feichtinger, R. G., Fichtner, A., Flechtenmacher, C., Hadzic, N., Hegarty, R., Heilos, A., Janecke, A., Konstantopoulou, V., Lenz, D., Mayr, J. A. (Co-author), Mueller, T., Prokisch, H. & Vogel, G. F., Dec 2024, In: HEPATOLOGY COMMUNICATIONS. 8, 12, 11 p., e0598.Research output: Contribution to journal › Original Article › peer-review
Open Access1 Citation (Web of Science) -
Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to know
Heath, O. (First author), Feichtinger, R. G. (Co-author), Achleitner, M. T. (Co-author), Hofbauer, P., Mayr, D., Merkevicius, K., Spenger, J. (Co-author), Steinbrücker, K. (Co-author), Steindl, C., Tiefenthaler, E., Mayr, J. A. (Co-author) & Wortmann, S. B. (Last author), 15 Dec 2024, (E-pub ahead of print) In: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 54, p. 75-88 14 p.Research output: Contribution to journal › Review article › peer-review
Open Access -
The phenotypic spectrum of <i>PTCD3</i> deficiency
Lace, B., Faqeih, E., Kaya, N., Krumina, Z., Mayr, J. A. (Co-author), Micule, I., Wright, N. T., Achleitner, M. T. (Co-author), Alqudairy, H., Pajusalu, S., Stavusis, J., Zayakin, P. & Inashkina, I., Sept 2024, In: JIMD REPORTS. 65, 5, p. 297-304 8 p.Research output: Contribution to journal › Case report › peer-review
Open Access -
Impact of GCSH-deficiency: a protein at the crossroad of one-carbon metabolism and cellular respiration
Arribas, L., Swanson, M., Ostergaard, E., Dallabona, C., Tsiakas, K., Hempel, M., Acquaviva, C., Farris, J., Stence, N., Magistrati, M., Koutsoukos, S., Spector, E., Kronquist, K., Christensen, M., Karstensen, H., Feichtinger, R., Achleitner, M., Merritt, L., Pérez, B. & Ugarte, M. & 11 others, , 11 May 2023, In: EUROPEAN JOURNAL OF HUMAN GENETICS . 31, 55th European-Society-of-Human-Genetics (ESHG) Conference, p. 423-424 2 p.Research output: Contribution to journal › Abstract (Journal) › peer-review
Projects
- 1 Active
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GENOMIT: A multi-omics approach for diagnostics and monitoring of mitochondrial disorders
Mayr, J. A. (PI), Achleitner, M. (Further contributor), Feichtinger, R. (Further contributor) & Wortmann, S. (Further contributor)
1/07/23 → 1/07/26
Project: Research