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"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child.
Published in:
2001
By:
- Gempel, Klaus;
- von Praun, Caroline;
- Baumkötter, Jochen;
- Lehnert, Willy;
- Ensenauer, Regina;
- Gerbitz, Klaus-Dieter;
- Bauer, Matthias F.;
- Gempel, K;
- von Praun, C;
- Baumkötter, J;
- Lehnert, W;
- Ensenauer, R;
- Gerbitz, K D;
- Bauer, M F
Publication type:
journal article
Mitochondrial Disorders. A Diagnostic Challenge in Clinical Chemistry.
Published in:
Clinical Chemistry & Laboratory Medicine, 1999, v. 37, n. 9, p. 855
By:
- Bauer, Matthias F.;
- Gempel, Klaus;
- Hofmann, Sabine;
- Jaksch, Michaela;
- Philbrook, Christine;
- Gerbitz, Klaus-Dieter
Publication type:
Article
Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation.
Published in:
Journal of Neurology, 2008, v. 255, n. 5, p. 643, doi. 10.1007/s00415-008-0763-4
By:
- Prestel, Jürgen;
- Gempel, Klaus;
- Hauser, Till-Karsten;
- Schweitzer, Katherine;
- Prokisch, Holger;
- Ahting, Uwe;
- Freudenstein, Dirk;
- Bueltmann, Eva;
- Naegele, Thomas;
- Berg, Daniela;
- Klopstock, Thomas;
- Gasser, Thomas
Publication type:
Article
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2037, doi. 10.1093/brain/awm054
By:
- Klaus Gempel;
- Haluk Topaloglu;
- Beril Talim;
- Peter Schneiderat;
- Benedikt G. H. Schoser;
- Volkmar H. Hans;
- Beatrix Pálmafy;
- Gulsev Kale;
- Aysegul Tokatli;
- Catarina Quinzii;
- Michio Hirano;
- Ali Naini;
- Salvatore DiMauro;
- Holger Prokisch;
- Hanns Lochmüller;
- Rita Horvath
Publication type:
Article
Treatment of glycogenosis type V with ketogenic diet.
Published in:
Annals of Neurology, 2005, v. 58, n. 2, p. 341
By:
- Verena Busch;
- Klaus Gempel;
- Alexandra Hack;
- Klaus Müller;
- Matthias Vorgerd;
- Hanns Lochmüller;
- Friedrich A. M. Baumeister
Publication type:
Article
Cystic renal dysplasia as a leading sign of inherited metabolic disease.
Published in:
2007
By:
- Distelmaier, Felix;
- Vogel, Markus;
- Spiekerkötter, Ute;
- Gempel, Klaus;
- Klee, Dirk;
- Braunstein, Stefan;
- Groneck, Heinz-Peter;
- Mayatepek, Ertan;
- Wendel, Udo;
- Schwahn, Bernd
Publication type:
Report
Mitochondria and Diabetes.
Published in:
Diabetes, 1996, v. 45, n. 2, p. 113
By:
- Gerbitz, Klaus-Dieter;
- Gempel, Klaus;
- Brdiczka, Dieter
Publication type:
Article
Investigation of citrullinemia type I variants by in vitro expression studies.
Published in:
Human Mutation, 2008, v. 29, n. 10, p. 1222, doi. 10.1002/humu.20784
By:
- Berning, Christoph;
- Bieger, Iris;
- Pauli, Silke;
- Vermeulen, Tim;
- Vogl, Thomas;
- Rummel, Till;
- Höhne, Wolfgang;
- Koch, Hans Georg;
- Rolinski, Boris;
- Gempel, Klaus;
- Häberle, Johannes
Publication type:
Article
Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 3, p. 541, doi. 10.1093/hmg/7.3.541
By:
- Lorenz, Bettina;
- Francis, Fiona;
- Gempel, Klaus;
- Böddrich, Annett;
- Josten, Markus;
- Schmahl, Wolfgang;
- Schmidt, Jörg;
- Lehrach, Hans;
- Meitinger, Thomas;
- Strom, Tim M.
Publication type:
Article
Lipopolysaccharide and ceramide docking to CD14 provokes ligand-specific receptor clustering in rafts.
Published in:
European Journal of Immunology, 2001, v. 31, n. 11, p. 3153, doi. 10.1002/1521-4141(200111)31:11<3153::AID-IMMU3153>3.0.CO;2-0
By:
- Pfeiffer, Alexandra;
- Böttcher, Alfred;
- Orsó, Evelyn;
- Kapinsky, Michael;
- Nagy, Peter;
- Bodnár, Andrea;
- Spreitzer, Ingo;
- Liebisch, Gerhard;
- Drobnik, Wolfgang;
- Gempel, Klaus;
- Horn, Markus;
- Holmer, Stefan;
- Hartung, Thomas;
- Multhoff, Gabriele;
- Schütz, Gerhard;
- Schindler †, Hansgeorg;
- Ulmer, Artur J.;
- Heine, Holger;
- Stelter, Felix;
- Schütt, Christine
Publication type:
Article

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