Ausgabe 1/2018
Inhalt (18 Artikel)
Do inborn errors of metabolism confer or impede the risk of diabetes?
Verena Peters, Jerry Vockley
The curse of idiopathic
Kevin J. O’Brien, William A. Gahl, Bernadette R. Gochuico
Metabolic pathways at the crossroads of diabetes and inborn errors
Eric S. Goetzman, Zhenwei Gong, Manuel Schiff, Yan Wang, Radhika H. Muzumdar
Understanding childhood diabetes mellitus: new pathophysiological aspects
Juergen Grulich-Henn, Daniela Klose
Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency
Verena Peters, Johannes Zschocke, Claus P. Schmitt
Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus
Kaitlyn Bloom, Al-Walid Mohsen, Anuradha Karunanidhi, Dina El Demellawy, Miguel Reyes-Múgica, Yudong Wang, Lina Ghaloul-Gonzalez, Chikara Otsubo, Kimi Tobita, Radhika Muzumdar, Zhenwei Gong, Emir Tas, Shrabani Basu, Jie Chen, Michael Bennett, Charles Hoppel, Jerry Vockley
Loss of sirtuin 4 leads to elevated glucose- and leucine-stimulated insulin levels and accelerated age-induced insulin resistance in multiple murine genetic backgrounds
Frank K. Huynh, Xiaoke Hu, Zhihong Lin, James D. Johnson, Matthew D. Hirschey
Lipoprotein-associated phospholipase A2 activity in obese adolescents with and without type 2 diabetes
Julia Seyfarth, Thomas Reinehr, Annika Hoyer, Christina Reinauer, Christina Bächle, Beate Karges, Ertan Mayatepek, Michael Roden, Sabine E. Hofer, Susanna Wiegand, Joachim Woelfle, Wieland Kiess, Joachim Rosenbauer, Reinhard W. Holl, Thomas Meissner
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders
Jochen Meyburg, Thomas Opladen, Ute Spiekerkötter, Andrea Schlune, Jens-Peter Schenk, Jan Schmidt, Jürgen Weitz, Jürgen Okun, Friederike Bürger, Tawfeg Ben Omran, Ghassan Abdoh, Hilal Al Rifai, Ahmad Monavari, Vassiliki Konstantopoulou, Stefan Kölker, Marc Yudkoff, Georg F. Hoffmann
Impairment of astrocytic glutaminolysis in glutaric aciduria type I
Shoko Komatsuzaki, Raga Deepthi Ediga, Jürgen G. Okun, Stefan Kölker, Sven W. Sauer
Isolated sulfite oxidase deficiency
Helena Claerhout, Peter Witters, Luc Régal, Katrien Jansen, Marie-Rose Van Hoestenberghe, Jeroen Breckpot, Pieter Vermeersch
Isolated aortic root dilation in homocystinuria
Massimiliano Lorenzini, Nishan Guha, James E. Davison, Alex Pitcher, Bejal Pandya, Helena Kemp, Robin Lachmann, Perry M. Elliott, Elaine Murphy
Impaired fertility and motor function in a zebrafish model for classic galactosemia
Jo M. Vanoevelen, Britt van Erven, Jörgen Bierau, Xiaoping Huang, Gerard T. Berry, Rein Vos, Ana I. Coelho, M. Estela Rubio-Gozalbo
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles
Alice Kuster, Jean-Baptiste Arnoux, Magalie Barth, Delphine Lamireau, Nada Houcinat, Cyril Goizet, Bérénice Doray, Stéphanie Gobin, Manuel Schiff, Aline Cano, Daniel Amsallem, Christine Barnerias, Boris Chaumette, Marion Plaze, Abdelhamid Slama, Christine Ioos, Isabelle Desguerre, Anne-Sophie Lebre, Pascale de Lonlay, Laurence Christa, Jean-Michel Pedespan, Alexandra Henrion-Caude, Lena Damaj, Sylvie Odent, Fabienne Clot, Christelle Corne, Loïc de Pontual, Nadia Bahi-Buisson, Gilles Martinez, Raphael Gaillard, Marie-Odile Krebs, Jean-François Benoist
Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study
Maarten Arends, Simon Körver, Derralynn A. Hughes, Atul Mehta, Carla E. M. Hollak, Marieke Biegstraaten
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
Amel Karaa, Shamima Rahman, Anne Lombès, Patrick Yu-Wai-Man, Muniza K. Sheikh, Sherita Alai-Hansen, Bruce H. Cohen, David Dimmock, Lisa Emrick, Marni J. Falk, Shana McCormack, David Mirsky, Tony Moore, Sumit Parikh, John Shoffner, Tanja Taivassalo, Mark Tarnopolsky, Ingrid Tein, Joanne C. Odenkirchen, Amy Goldstein
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease
Omar Hikmat, Charalampos Tzoulis, Claus Klingenberg, Magnhild Rasmussen, Chantal M. E. Tallaksen, Eylert Brodtkorb, Torunn Fiskerstrand, Robert McFarland, Shamima Rahman, Laurence A. Bindoff