Volume 35, Issue 4

Journal of Inherited Metabolic Disease is now archived and no longer receiving submissions with this publisher. All articles published in the journal during its time with Springer will remain fully searchable through our websites.

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July 2012

17 articles in this issue

SSIEM 2011
Nenad Blau
Brian Fowler
Editorial 19 June 2012 Pages: 569 - 569
Progress in understanding 2-hydroxyglutaric acidurias
Martijn Kranendijk
Eduard A. Struys
Cornelis Jakobs
Metabolic Dissertation Open access 06 March 2012 Pages: 571 - 587
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management
Senthil Senniappan
Balasubramaniam Shanti
Khalid Hussain
Review 10 January 2012 Pages: 589 - 601
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result
J. Gerard Loeber
Peter Burgard
Luciano Vittozzi
SSIEM Symposium 2011 03 May 2012 Pages: 603 - 611
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
Georg F. Hoffmann
SSIEM Symposium 2011 28 April 2012 Pages: 613 - 625
Newborn screening for lysosomal storage diseases: an ethical and policy analysis
Lainie Friedman Ross
SSIEM Symposium 2011 22 December 2011 Pages: 627 - 634
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
Piet A. Bolhuis
SSIEM Symposium 2011 Open access 03 February 2012 Pages: 635 - 640
Gene therapy for metabolic disorders: an overview with a focus on urea cycle disorders
Ian E. Alexander
Cindy Kok
Sharon C. Cunningham
SSIEM Symposium 2011 09 March 2012 Pages: 641 - 645
Creatine metabolism in urea cycle defects
Sara Boenzi
Anna Pastore
Carlo Dionisi-Vici
SSIEM Symposium 2011 30 May 2012 Pages: 647 - 653
Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers
Olivier Braissant
SSIEM Symposium 2011 18 January 2012 Pages: 655 - 664
Update and new concepts in vitamin responsive disorders of folate transport and metabolism
David Watkins
David S. Rosenblatt
SSIEM Symposium 2011 23 November 2011 Pages: 665 - 670
In search of proof-of-concept: gene therapy for glycogen storage disease type Ia
Dwight D. Koeberl
SSIEM Symposium 2011 07 February 2012 Pages: 671 - 678
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ₁₀)
Rita Horvath
SSIEM Symposium 2011 10 January 2012 Pages: 679 - 687
The clinical implementation of whole genome sequencing: a conversation with seven scientific experts
Jordan P. Lerner-Ellis
SSIEM Symposium 2011 09 March 2012 Pages: 689 - 693
Genetically modified pigs for biomedical research
Yonglun Luo
Lin Lin
Charlotte Brandt Sørensen
SSIEM Symposium 2011 28 March 2012 Pages: 695 - 713
Mitochondrial proteomics—a tool for the study of metabolic disorders
Niels Gregersen
Jakob Hansen
Johan Palmfeldt
SSIEM Symposium 2010 17 April 2012 Pages: 715 - 726
Transcobalamin (TC) deficiency and newborn screening
Chitra Prasad
A. E. Cairney
C. A. Rupar
Letter to the Editors 14 December 2011 Pages: 727 - 727

Volume 35, Issue 4

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