@article{UBHD-68381176, author={Komatsuzaki, Shoko and Zielonka, Matthias and Mountford, William K. and K{\"o}lker, Stefan and Hoffmann, Georg F. and Garbade, Sven and Ries, Markus}, title={Clinical characteristics of 248 patients with Krabbe disease}, subtitle={quantitative natural history modeling based on published cases}, year={2019}, pages={2208-2215}, language={eng}, issn={1530-0366}, volume={21}, number={10}, note={Gesehen am 17.04.2019}, journal={Genetics in medicine}, doi={10.1038/s41436-019-0480-7}, } @article{UBHD-68004558, author={Komatsuzaki, Shoko}, title={First Japanese case of Zellweger syndrome with a mutation in PEX14}, year={2015}, pages={1189-1192}, language={eng}, issn={1442-200X}, volume={57}, number={6}, note={Gesehen am 07.07.2016}, journal={Pediatrics international}, doi={10.1111/ped.12713}, } @article{UBHD-68320644, author={Komatsuzaki, Shoko and Ediga, Raga and Okun, J{\"u}rgen G. and K{\"o}lker, Stefan and Sauer, Sven}, title={Impairment of astrocytic glutaminolysis in glutaric aciduria type I}, year={2018}, pages={91-99}, language={eng}, issn={1573-2665}, volume={41}, number={1}, note={First online: 02 November 2017 ; Gesehen am 24.10.2018}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-017-0096-5}, } @article{UBHD-68132865, author={Sauer, Sven and Opp, Silvana and Komatsuzaki, Shoko and Burgard, Peter and Okun, J{\"u}rgen G. and K{\"o}lker, Stefan}, title={Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I}, year={2015}, pages={768-777}, language={eng}, issn={1879-260X}, volume={1852}, number={5}, note={Gesehen am 30.06.2017}, journal={Biochimica et biophysica acta}, doi={10.1016/j.bbadis.2014.12.022}, }