Issue 4/2008
Content (10 Articles)
Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed
S. Al Sawaf, E. Mayatepek, B. Hoffmann
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
Profiling of astrocyte properties in the hyperammonaemic brain: Shedding new light on the pathophysiology of the brain damage in hyperammonaemia
U. Lichter-Konecki
Glutaric aciduria type I: outcome following detection by newborn screening
S. Bijarnia, V. Wiley, K. Carpenter, J. Christodoulou, C. J. Ellaway, B. Wilcken
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
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
Correlates of language impairment in children with galactosaemia
N. L. Potter, J.-A. C. Lazarus, J. M. Johnson, R. D. Steiner, L. D. Shriberg
FDG-PET findings in patients with galactosaemia
J. G. Dubroff, C. Ficicioglu, S. Segal, N. A. Wintering, A. Alavi, A. B. Newberg
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
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