Issue 4/2012
Content (17 Articles)
Progress in understanding 2-hydroxyglutaric acidurias
Martijn Kranendijk, Eduard A. Struys, Gajja S. Salomons, Marjo S. Van der Knaap, Cornelis Jakobs
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management
Senthil Senniappan, Balasubramaniam Shanti, Chela James, Khalid Hussain
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result
J. Gerard Loeber, Peter Burgard, Martina C. Cornel, Tessel Rigter, Stephanie S. Weinreich, Kathrin Rupp, Georg F. Hoffmann, Luciano Vittozzi
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow-up and quality assurance
Peter Burgard, Kathrin Rupp, Martin Lindner, Gisela Haege, Tessel Rigter, Stephanie S. Weinreich, J. Gerard Loeber, Domenica Taruscio, Luciano Vittozzi, Martina C. Cornel, Georg F. Hoffmann
Newborn screening for lysosomal storage diseases: an ethical and policy analysis
Lainie Friedman Ross
Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011
Martina C. Cornel, Johan J. P. Gille, J. Gerard Loeber, Annette M. M. Vernooij-van Langen, Jeannette Dankert-Roelse, Piet A. Bolhuis
Gene therapy for metabolic disorders: an overview with a focus on urea cycle disorders
Ian E. Alexander, Cindy Kok, Allison P. Dane, Sharon C. Cunningham
Creatine metabolism in urea cycle defects
Sara Boenzi, Anna Pastore, Diego Martinelli, Bianca Maria Goffredo, Arianna Boiani, Cristiano Rizzo, Carlo Dionisi-Vici
Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers
Olivier Braissant
Update and new concepts in vitamin responsive disorders of folate transport and metabolism
David Watkins, David S. Rosenblatt
In search of proof-of-concept: gene therapy for glycogen storage disease type Ia
Dwight D. Koeberl
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ10)
Rita Horvath
The clinical implementation of whole genome sequencing: a conversation with seven scientific experts
Jordan P. Lerner-Ellis
Genetically modified pigs for biomedical research
Yonglun Luo, Lin Lin, Lars Bolund, Thomas G. Jensen, Charlotte Brandt Sørensen
Mitochondrial proteomics—a tool for the study of metabolic disorders
Niels Gregersen, Jakob Hansen, Johan Palmfeldt
Transcobalamin (TC) deficiency and newborn screening
Chitra Prasad, A. E. Cairney, D. S. Rosenblatt, C. A. Rupar