Ausgabe 6/2008
Inhalt (18 Artikel)
The unexplored potential of the pentose phosphate pathway in health and disease
Gerard T. Berry
SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex
K. R. Drasbek, I. Vardya, M. Delenclos, K. M. Gibson, K. Jensen
On the nomenclature of congenital disorders of glycosylation (CDG)
J. Jaeken, T. Hennet, H. H. Freeze, G. Matthijs
The truth of treating patients with phenylketonuria after childhood: The need for a new guideline
F. J. van Spronsen, P. Burgard
Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM
B. Fowler, A. Burlina, V. Kozich, C. Vianey-Saban
Qualitative urinary organic acid analysis: Methodological approaches and performance
V. Peters, S. F. Garbade, C. D. Langhans, G. F. Hoffmann, R. J. Pollitt, M. Downing, J. R. Bonham
Quality of diagnostic mutation analyses for phenylketonuria
J. Zschocke, C. Aulehla-Scholz, S. Patton
The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: A review
M. M. C. Wamelink, E. A. Struys, C. Jakobs
Long-term compliance with a novel vitamin and mineral supplement in older people with PKU
A. MacDonald, P. Lee, P. Davies, A. Daly, M. Lilburn, H. Gokmen Ozel, M. A. Preece, C. Hendriksz, A. Chakrapani
Arginine supplementation in four patients with X-linked creatine transporter defect
C. Fons, A. Sempere, A. Arias, A. López-Sala, P. Póo, M. Pineda, A. Mas, M. A. Vilaseca, G. S. Salomons, A. Ribes, R. Artuch, J. Campistol
Hyperlipidemia in glycogen storage disease type III: Effect of age and metabolic control
A. V. Bernier, C. P. Sentner, C. E. Correia, D. W. Theriaque, J. J. Shuster, G. P. A. Smit, D. A. Weinstein
Home treatment with Elaprase® and Naglazyme® is safe in patients with mucopolysaccharidoses types II and VI, respectively
S. Bagewadi, J. Roberts, J. Mercer, S. Jones, J. Stephenson, J. E. Wraith
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: An analysis of 798 patients from the ICGG Gaucher Registry
C. Fairley, A. Zimran, M. Phillips, M. Cizmarik, J. Yee, N. Weinreb, S. Packman
Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III
J. Cox-Brinkman, M. J. van Breemen, B. T. van Maldegem, L. Bour, W. E. Donker, C. E. M. Hollak, F. A. Wijburg, J. M. F. G. Aerts
Intravascular ultrasound assessment of coronary artery involvement in Fabry disease
T. Kovarnik, G. S. Mintz, D. Karetova, J. Horak, J. Bultas, R. Skulec, H. Skalicka, M. Aschermann, M. Elleder, A. Linhart
Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R
R. P. McAndrew, J. Vockley, J.-J. P. Kim
In response to ‘Newborn screening in North America’ (Therrell and Adams (2007) J Inherit Metab Dis 30:447–465)
H. Vallance, S. Sirrs, F. Bamforth, S. Stockler-Ipsiroglu