@article{UBHD-68675911, author={Bandmann, Oliver and Goertz, M. and Zschocke, Johannes and Deuschl, G{\"u}nther and Jost, W. and Hefter, H. and M{\"u}ller, U. and Z{\"o}fel, P. and Hoffmann, Georg F. and Oertel, W.}, title={The phenylalanine loading test in the differential diagnosis of dystonia}, year={2003}, pages={700-702}, language={eng}, issn={1526-632X}, volume={60}, number={4}, note={Gesehen am 22.12.2020}, journal={Neurology}, doi={10.1212/01.WNL.0000048205.18445.98}, } @article{UBHD-69102645, author={Gan-Schreier, Hongying and Kebbewar, Moustafa and Fang-Hoffmann, Junmin and Wilrich, Julia and Abdoh, Ghassan and Ben-Omran, Tawfeg and Shahbek, Noora and Bener, Abdulbari and Al Rifai, Hilal and Al Khal, Abdul Latif and Lindner, Martin and Zschocke, Johannes and Hoffmann, Georg F.}, title={Newborn population screening for classic homocystinuria by determination of total homocysteine from guthrie cards}, year={2010}, pages={427-432}, language={eng}, issn={1097-6833}, volume={156}, number={3 vom: M{\"a}rz}, note={Online ver{\"o}ffentlicht am 14. November 2009 ; Gesehen am 31.07.2023}, journal={The journal of pediatrics}, doi={10.1016/j.jpeds.2009.09.054}, } @article{UBHD-68922138, author={Janssen, Bart and Rose, Daniela and Brinkk{\"o}tter, Paul-Thomas and Peters, Verena and Rind, Nina and Fischer, Christine and Rychlik, Ivan and Cerna, Marie and Romzova, Marianna and de Heer, Emile and Baelde, Hans and Bakker, Stephan J.L. and Zirie, Mahmoud and Rondeau, Eric and Mathieson, Peter and Saleem, Moin A. and Meyer, Jochen and K{\"o}ppel, Hannes and Hauske, Sibylle J. and Bartram, Claus R. and Nawroth, Peter Paul and Hammes, Hans-Peter and Yard, Benito A. and Zschocke, Johannes and Woude, Fokko J. van der}, title={Carnosine as a protective factor in diabetic nephropathy}, subtitle={association with a leucine repeat of the carnosinase gene CNDP1}, year={2005}, pages={2320-2327}, language={eng}, issn={1939-327X}, volume={54}, number={8}, note={Gesehen am 24.05.2022}, journal={Diabetes}, doi={10.2337/diabetes.54.8.2320}, } @article{UBHD-68675566, author={Knerr, Ina M. and Zschocke, Johannes and Trautmann, U. and Dorland, L. and Koning, T. J. de and M{\"u}ller, P. and Christensen, E. and Trefz, F. K. and W{\"u}ndisch, G. F. and Rascher, W. and Hoffmann, Georg F.}, title={Glutaric aciduria type III}, subtitle={A distinctive non-disease?}, year={2002}, pages={483-490}, language={eng}, issn={1573-2665}, volume={25}, number={6}, note={Gesehen am 21.12.2020}, journal={Journal of inherited metabolic disease}, doi={10.1023/A:1021207419125}, } @article{UBHD-68675881, author={Ly-Hartig, Thi Bach Nga and Peters, Verena and Gibson, K. Michael and Liesert, Michael and Buckel, Wolfgang and Wilcken, Bridget and Carpenter, Kevin and Ensenauer, Regina and Hoffmann, Georg F. and Mack, Matthias and Zschocke, Johannes}, title={Mutations in the AUH gene cause 3-methylglutaconic aciduria type I}, year={2003}, pages={401-407}, language={eng}, issn={1098-1004}, volume={21}, number={4}, note={Gesehen am 22.12.2020}, journal={Human mutation}, doi={10.1002/humu.10202}, } @article{UBHD-68289788, author={Schossig, Anna Sarah and Wolf, Nicole and Fischer, Christine and Burwinkel, Barbara and Grond-Ginsbach, Caspar and Koch, Martin Jean and Deichmann, Annette and Kalle, Christof von and Bartram, Claus R. and Zschocke, Johannes}, title={Mutations in ROGDI cause Kohlsch{\"u}tter-T{\"o}nz syndrome}, year={2012}, pages={701-707}, language={eng}, issn={1537-6605}, volume={90}, number={4}, note={Gesehen am 27.07.2018}, journal={The American journal of human genetics}, doi={10.1016/j.ajhg.2012.02.012}, } @article{UBHD-68713625, author={Wolf, Nicole and Harting, Inga and Boltshauser, E. and Wiegand, G. and Koch, Martin Jean and Schmitt-Mechelke, T. and Martin, E. and Zschocke, Johannes and Uhlenberg, B. and Hoffmann, Georg F. and Weber, L. and Ebinger, Friedrich and Rating, Dietz}, title={Leukoencephalopathy with ataxia, hypodontia, and hypomyelination}, year={2005}, pages={1461-1464}, language={eng}, issn={1526-632X}, volume={64}, number={8}, note={Gesehen am 17.03.2021}, journal={Neurology}, doi={10.1212/01.WNL.0000158615.56071.E3}, } @article{UBHD-68901922, author={Zschocke, Johannes and Penzien, Johannes M. and Bielen, Rainer and Casals, Núria and Aledo, Rosa and Pié, Juan and Hoffmann, Georg F. and Hegardt, Fausto G. and Mayatepek, Ertan}, title={The diagnosis of mitochondrial HMG-CoA synthase deficiency}, year={2002}, pages={778-780}, language={eng}, issn={1097-6833}, volume={140}, number={6}, note={Gesehen am 31.03.2022}, journal={The journal of pediatrics}, doi={10.1067/mpd.2002.123854}, } @book{UBHD-65628429, author={Zschocke, Johannes}, title={Genetische Determinanten ph{\"a}notypischer Variabilit{\"a}t bei erblichen St{\"o}rungen des Intermedi{\"a}rstoffwechsels im Kindesalter}, year={2003}, pages={Getr. Z{\"a}hlung}, language={ger and eng}, note={Enth. auch Zeitschriftenaufs{\"a}tze. - Text teilw. dt., teilw. engl}, school={Heidelberg, Univ., Habil.-Schr., 2003}, library={UB [Signatur: 2003 U 421]}, } @article{UBHD-68675904, author={Zschocke, Johannes and Preusse, Astrid and Sarnavka, Vladimir and Fumic, Ksenija and Mardešic, Duško and Hoffmann, Georg F. and Baric, Ivo}, title={The molecular basis of phenylalanine hydroxylase deficiency in Croatia}, year={2003}, pages={6 S.}, language={eng}, issn={1098-1004}, volume={21}, note={Gesehen am 22.12.2020}, journal={Human mutation}, doi={10.1002/humu.9115}, } @article{UBHD-68901943, author={Zschocke, Johannes and Schindler, S. and Hoffmann, Georg F. and Albani, Michael}, title={Nature and nurture in vitamin B12 deficiency}, year={2002}, pages={75-76}, language={eng}, issn={1468-2044}, volume={87}, number={1}, note={Gesehen am 31.03.2022}, journal={Archives of disease in childhood}, doi={10.1136/adc.87.1.75}, }