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Journal of Inherited Metabolic Disease

Ausgabe 4/2012

Inhalt (17 Artikel)

Editorial

SSIEM 2011

Nenad Blau, Brian Fowler

Open Access Metabolic Dissertation

Progress in understanding 2-hydroxyglutaric acidurias

Martijn Kranendijk, Eduard A. Struys, Gajja S. Salomons, Marjo S. Van der Knaap, Cornelis Jakobs

Review

Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management

Senthil Senniappan, Balasubramaniam Shanti, Chela James, Khalid Hussain

SSIEM Symposium 2011

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

SSIEM Symposium 2011

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

Open Access SSIEM Symposium 2011

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

SSIEM Symposium 2011

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

SSIEM Symposium 2011

Creatine metabolism in urea cycle defects

Sara Boenzi, Anna Pastore, Diego Martinelli, Bianca Maria Goffredo, Arianna Boiani, Cristiano Rizzo, Carlo Dionisi-Vici

SSIEM Symposium 2011

Genetically modified pigs for biomedical research

Yonglun Luo, Lin Lin, Lars Bolund, Thomas G. Jensen, Charlotte Brandt Sørensen

SSIEM Symposium 2010

Mitochondrial proteomics—a tool for the study of metabolic disorders

Niels Gregersen, Jakob Hansen, Johan Palmfeldt

Letter to the Editors

Transcobalamin (TC) deficiency and newborn screening

Chitra Prasad, A. E. Cairney, D. S. Rosenblatt, C. A. Rupar

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