Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Katharina Schiergens"'
Autor:
Amelie S. Lotz-Havla, Katharina Weiß, Katharina Schiergens, Stephanie Regenauer-Vandewiele, Klaus G. Parhofer, Tara Christmann, Luise Böhm, Joachim Havla, Esther M. Maier
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
In phenylalanine hydroxylase (PAH) deficiency, an easily feasible method to access the progression of neurodegeneration is warranted to contribute to current discussions on treatment indications and targets. The objective of the present study was to
Externí odkaz:
https://doaj.org/article/dc53cab277ff4e09819fe14c49b08d4f
Autor:
Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann, Esther M. Maier
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Abstract Background Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency are long-chain fatty acid oxidation disorders with particularly high morbidity and mortality. Outcome can be favorable if
Externí odkaz:
https://doaj.org/article/011690140eb749a5855ecf9391df2e75