Ausgabe 3/2010
Inhalt (12 Artikel)
Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease
Peethambaran Arun, Chikkathur N. Madhavarao, John R. Moffett, Kristen Hamilton, Neil E. Grunberg, Prasanth S. Ariyannur, William A. Gahl, Yair Anikster, Steven Mog, William C. Hallows, John M. Denu, Aryan M. A. Namboodiri
Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria
Christina B. Pedersen, Zarazuela Zolkipli, Søren Vang, Johan Palmfeldt, Margrethe Kjeldsen, Vibeke Stenbroen, Stinne P. Schmidt, Ronald J. A. Wanders, Jos P. N. Ruiter, Flemming Wibrand, Ingrid Tein, Niels Gregersen
Should transcobalamin deficiency be treated aggressively?
Manuel Schiff, Hélène Ogier de Baulny, Ghislaine Bard, Vincent Barlogis, Christian Hamel, Stuart J. Moat, Sylvie Odent, Graham Shortland, Guy Touati, Stéphane Giraudier
Hematopoiesis in the thymidine kinase 2 deficient mouse model of mitochondrial DNA depletion syndrome
Xiaoshan Zhou, Magnus Johansson, Nicola Solaroli, Björn Rozell, Alf Grandien, Anna Karlsson
Pre-exercise medium-chain triglyceride application prevents acylcarnitine accumulation in skeletal muscle from very-long-chain acyl-CoA-dehydrogenase-deficient mice
Sonja Primassin, Sara Tucci, Diran Herebian, Annette Seibt, Lars Hoffmann, Frank ter Veld, Ute Spiekerkoetter
High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene
Rikke Katrine Jentoft Olsen, Steven F. Dobrowolski, Margrethe Kjeldsen, David Hougaard, Henrik Simonsen, Niels Gregersen, Brage Storstein Andresen
Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice
Danielle te Vruchte, Aruna Jeans, Frances M. Platt, Daniel John Sillence
Gaucher disease: a systematic review and meta-analysis of bone complications and their response to treatment
Siavash Piran, Dominick Amato
Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy
John Marshall, Kerry Anne McEachern, Wei-Lien Chuang, Elizabeth Hutto, Craig S. Siegel, James A. Shayman, Greg A. Grabowski, Ronald K. Scheule, Diane P. Copeland, Seng H. Cheng
High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease
Tamar H. Taddei, James Dziura, Shu Chen, Ruhua Yang, Hideyuki Hyogo, Cameron Sullards, David E. Cohen, Gregory Pastores, Pramod K. Mistry
Basal ganglia lesions in the early stage of Menkes disease
Katarina Koprivsek, Milos Lucic, Dusko Kozic, Maja Djordjevic, Ruzica Kravljanac
Lysosomal lipid vacuoles in macrophages located in the colon
Wouter Meersseman, Steven Vanderschueren, Rita De Vos, David Cassiman