Issue 4/2014
Content (21 Articles)
12th international congress of inborn errors of metabolism, 3rd–6th September, 2013
Jaime Campistol, Antonia Ribes
Modelling inborn errors of metabolism in zebrafish
Kim Wager, Fahad Mahmood, Claire Russell
The potential of exosomes in diagnosis and treatment of inborn errors of metabolism
Bas W. M. van Balkom, Jaap van Doorn, Nanda M. Verhoeven-Duif, Marianne C. Verhaar
Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators
Ania C. Muntau, João Leandro, Michael Staudigl, Felix Mayer, Søren W. Gersting
Lentiviral vectors for the treatment of primary immunodeficiencies
Giada Farinelli, Valentina Capo, Samantha Scaramuzza, Alessandro Aiuti
Treating inborn errors of liver metabolism with stem cells: current clinical development
Etienne Marc Sokal
Ketone body metabolism and its defects
Toshiyuki Fukao, Grant Mitchell, Jörn Oliver Sass, Tomohiro Hori, Kenji Orii, Yuka Aoyama
Lipoic acid biosynthesis defects
Johannes A. Mayr, René G. Feichtinger, Frederic Tort, Antonia Ribes, Wolfgang Sperl
Mitochondrial transporters of the SLC25 family and associated diseases: a review
Ferdinando Palmieri
Treatment of lysosomal storage disorders: successes and challenges
Carla E. M. Hollak, Frits A. Wijburg
Congenital disorders of glycosylation: new defects and still counting
Kyle Scott, Therese Gadomski, Tamas Kozicz, Eva Morava
What is new for monoamine neurotransmitter disorders?
Clara Marecos, Joanne Ng, Manju A. Kurian
The significance of GBA for Parkinson’s disease
Kathrin Brockmann, Daniela Berg
A brief overview of galactosemia newborn screening in the United States
Brook M. Pyhtila, Kelly A. Shaw, Samantha E. Neumann, Judith L. Fridovich-Keil
Comment on Zwickler et al.: Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia
M. G. M. de Sain-van der Velden, M. van der Ham, N. M. Verhoeven-Duif, G. Visser, P. M. van Hasselt
Arterial stiffness in patients with non-classic Pompe disease: role of antihypertensive drugs and statins
Ercan Varol
Physician’s guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases
Christian Staufner, Verena Peters
Erratum to: Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands
Jan Rasmussen, Olav W. Nielsen, Nils Janzen, Morten Duno, Hannes Gislason, Lars Køber, Ulrike Steuerwald, Allan M. Lund