Ausgabe 3/2015
Inhalt (28 Artikel)
Next generation mitochondrial disease: change in diagnostics with eyes on therapy
Eva Morava, Garry K Brown
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders
Wolfgang Sperl, Leanne Fleuren, Peter Freisinger, Tobias B. Haack, Antonia Ribes, René G. Feichtinger, Richard J. Rodenburg, Franz A. Zimmermann, Johannes Koch, Isabel Rivera, Holger Prokisch, Jan A. Smeitink, Johannes A. Mayr
Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency
Immo E. Scheffler
TMEM70 deficiency: long-term outcome of 48 patients
Martin Magner, Veronika Dvorakova, Marketa Tesarova, Stella Mazurova, Hana Hansikova, Martin Zahorec, Katarina Brennerova, Vladimir Bzduch, Ronen Spiegel, Yoseph Horovitz, Hanna Mandel, Fatma Tuba Eminoğlu, Johannes Adalbert Mayr, Johannes Koch, Diego Martinelli, Enrico Bertini, Vassiliki Konstantopoulou, Joél Smet, Shamima Rahman, Alexander Broomfield, Vesna Stojanović, Carlo Dionisi-Vici, Rudy van Coster, Eva Morava-Kozicz, Wolfgang Sperl, Jiri Zeman, Tomas Honzik
Reversible infantile mitochondrial diseases
Veronika Boczonadi, Boglarka Bansagi, Rita Horvath
Whole exome sequencing of suspected mitochondrial patients in clinical practice
Saskia B. Wortmann, David A. Koolen, Jan A. Smeitink, Lambert van den Heuvel, Richard J. Rodenburg
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease
Alexander Broomfield, Mary G. Sweeney, Cathy E. Woodward, Carl Fratter, Andrew M. Morris, James V. Leonard, Lara Abulhoul, Stephanie Grunewald, Peter T. Clayton, Michael G. Hanna, Joanna Poulton, Shamima Rahman
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations
James J. Pitt, Heidi Peters, Avihu Boneh, Joy Yaplito-Lee, Stefanie Wieser, Katrin Hinderhofer, David Johnson, Johannes Zschocke
Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease
Katharina Danhauser, Jan A. M. Smeitink, Peter Freisinger, Wolfgang Sperl, Hemmen Sabir, Berit Hadzik, Ertan Mayatepek, Eva Morava, Felix Distelmaier
High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders
Sebastian Franik, Hidde H. Huidekoper, Gepke Visser, Maaike de Vries, Lonneke de Boer, Marion Hermans-Peters, Richard Rodenburg, Chris Verhaak, Arine M. Vlieger, Jan A. M. Smeitink, Mirian C. H. Janssen, Saskia B. Wortmann
Glycogen pathways in disease: new developments in a classical field of medical genetics
Manfred W. Kilimann, Anders Oldfors
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children
Laurie M. Brown, Michelle M. Corrado, Rixt M. van der Ende, Terry G. J. Derks, Margaret A. Chen, Sara Siegel, Kate Hoyt, Catherine E. Correia, Christopher Lumpkin, Theresa B. Flanagan, Caroline T. Carreras, David A. Weinstein
Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease
J. C. van der Meijden, D. Güngör, M. E. Kruijshaar, A. D. J. Muir, H. A. Broekgaarden, A. T. van der Ploeg
Large animal models and new therapies for glycogen storage disease
Elizabeth D. Brooks, Dwight D. Koeberl
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes
Janice Y. Chou, Hyun Sik Jun, Brian C. Mansfield
Lessons from new mouse models of glycogen storage disease type 1a in relation to the time course and organ specificity of the disease
Fabienne Rajas, Julie Clar, Amandine Gautier-Stein, Gilles Mithieux
In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases
Tatiéle Nalin, Koen Venema, David A. Weinstein, Carolina F. M de Souza, Ingrid D. S. Perry, Mario T. R. van Wandelen, Margreet van Rijn, G. Peter A. Smit, Ida V. D. Schwartz, Terry G. J. Derks
Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions
Terry G. J. Derks, Margreet van Rijn
Dietary management in glycogen storage disease type III: what is the evidence?
Terry G. J. Derks, G. Peter A. Smit
Exercise in muscle glycogen storage diseases
Nicolai Preisler, Ronald G Haller, John Vissing
Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients
Pierre G. Carlier, Noura Azzabou, Paulo Loureiro de Sousa, Arnaud Hicks, Jean-Marc Boisserie, Alexis Amadon, Robert-Yves Carlier, Claire Wary, David Orlikowski, Pascal Laforêt
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases
Claire-Cécile Michon, Marcela Gargiulo, Valérie Hahn-Barma, François Petit, Aleksandra Nadaj-Pakleza, Ariane Herson, Bruno Eymard, Philippe Labrune, Pascal Laforet
Erratum to: 12th international congress of inborn errors of metabolism, 3rd–6th September, 2013
Jaime Campistol, Antonia Ribes
Erratum to: TMEM70 deficiency: long-term outcome of 48 patients
Martin Magner, Veronika Dvorakova, Marketa Tesarova, Stella Mazurova, Hana Hansikova, Martin Zahorec, Katarina Brennerova, Vladimir Bzduch, Ronen Spiegel, Yoseph Horovitz, Hanna Mandel, Fatma Tuba Eminoğlu, Johannes Adalbert Mayr, Johannes Koch, Diego Martinelli, Enrico Bertini, Vassiliki Konstantopoulou, Joél Smet, Shamima Rahman, Alexander Broomfield, Vesna Stojanović, Carlo Dionisi-Vici, Rudy van Coster, Eva Morava, Wolfgang Sperl, Jiri Zeman, Tomas Honzik
Diane B. Paul and Jeffrey P Brosco: The PKU Paradox. A Short History of a Genetic Disease
Neil R. M. Buist
Georg F. Hoffmann and Nenad Blau (eds): Congenital Neurotransmitter Disorders: A Clinical Approach
Nikolas Boy, Verena Peters