Issue 4/2013
Content (12 Articles)
An update on serine deficiency disorders
S. N. van der Crabben, N. M. Verhoeven-Duif, E. H. Brilstra, L. Van Maldergem, T. Coskun, E. Rubio-Gozalbo, R. Berger, T. J. de Koning
Effects of hypoglycaemia on neuronal metabolism in the adult brain: role of alternative substrates to glucose
Ana I. Amaral
Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation
Stefan Kölker, Peter Burgard, Sven W. Sauer, Jürgen G. Okun
Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability
Simon E Olpin
Gastrointestinal and hepatic manifestations of mitochondrial disorders
Shamima Rahman
Liver transplantation and cell therapies for inborn errors of metabolism
Patrick McKiernan
Impact of new screening technologies: should we screen and does phenotype influence this decision?
James Robert Bonham
The neuropsychiatry of inborn errors of metabolism
Mark Walterfang, Olivier Bonnot, Ramon Mocellin, Dennis Velakoulis
Erratum to: Simultaneous LC-MS/MS determination of phenylbutyrate, phenylacetate, benzoate and their corresponding metabolites phenylacetylglutamine and hippurate in blood and urine
Maurice D. Laryea, Diran Herebian, Thomas Meissner, Ertan Mayatepek
Erratum to: Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan
Hsiang-Yu Lin, Ming-Ren Chen, Chih-Kuang Chuang, Chih-Ping Chen, Dar-Shong Lin, Yin-Hsiu Chien, Yu-Yuan Ke, Fuu-Jen Tsai, Hui-Ping Pan, Shio-Jean Lin, Wuh-Liang Hwu, Dau-Ming Niu, Ni-Chung Lee, Shuan-Pei Lin
Erratum to: Expanded newborn screening in Greece: 30 months of experience
Yannis L. Loukas, Georgios-Stefanos Soumelas, Yannis Dotsikas, Vassiliki Georgiou, Elina Molou, Georgia Thodi, Maria Boutsini, Sofia Biti, Konstantinos Papadopoulos