Ausgabe 4/2008
Inhalt (10 Artikel)
Review
Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed
S. Al Sawaf, E. Mayatepek, B. Hoffmann
Original Article
Human carbamoyl-phosphate synthetase: Insight into N-acetylglutamate interaction and the functional effects of a common single nucleotide polymorphism
V. Ahuja, S. G. Powers-Lee
Original Article
Profiling of astrocyte properties in the hyperammonaemic brain: Shedding new light on the pathophysiology of the brain damage in hyperammonaemia
U. Lichter-Konecki
Original Article
Glutaric aciduria type I: outcome following detection by newborn screening
S. Bijarnia, V. Wiley, K. Carpenter, J. Christodoulou, C. J. Ellaway, B. Wilcken
Open Access
Original Article
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy
P. Vylet’al, H. Hůlková, M. Živná, L. Berná, P. Novák, M. Elleder, S. Kmoch
Original Article
Neurocognitive testing in late-onset Tay–Sachs disease: A pilot study
D. Elstein, G. M. Doniger, E. Simon, I. Korn-Lubetzki, R. Navon, A. Zimran
Original Article
Correlates of language impairment in children with galactosaemia
N. L. Potter, J.-A. C. Lazarus, J. M. Johnson, R. D. Steiner, L. D. Shriberg
Original Article
FDG-PET findings in patients with galactosaemia
J. G. Dubroff, C. Ficicioglu, S. Segal, N. A. Wintering, A. Alavi, A. B. Newberg
Original Article
Recurrent acute liver failure and mitochondriopathy in a case of Wolcott–Rallison syndrome
G. Engelmann, J. Meyburg, N. Shahbek, M. Al-Ali, M. H. Hairetis, A. J. Baker, R. J. T. Rodenburg, D. Wenning, C. Flechtenmacher, S. Ellard, J. A. Smeitink, G. F. Hoffmann, C. R. Buchanan
Letter to the Editor
Detection of urinary hexanoylglycine in the diagnosis of MCAD deficiency from newborn screening
M. Downing, N. J. Manning, R. N. Dalton, S. Krywawych, J. Oerton