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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 4/2008

Ausgabe 4/2008

Inhaltsverzeichnis ( 10 Artikel )

01.08.2008 | Review | Ausgabe 4/2008

Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed

S. Al Sawaf, E. Mayatepek, B. Hoffmann

01.08.2008 | Original Article | Ausgabe 4/2008

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

01.08.2008 | Original Article | Ausgabe 4/2008

Profiling of astrocyte properties in the hyperammonaemic brain: Shedding new light on the pathophysiology of the brain damage in hyperammonaemia

U. Lichter-Konecki

01.08.2008 | Original Article | Ausgabe 4/2008

Glutaric aciduria type I: outcome following detection by newborn screening

S. Bijarnia, V. Wiley, K. Carpenter, J. Christodoulou, C. J. Ellaway, B. Wilcken

01.08.2008 | Original Article | Ausgabe 4/2008 Open Access

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

01.08.2008 | Original Article | Ausgabe 4/2008

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

01.08.2008 | Original Article | Ausgabe 4/2008

Correlates of language impairment in children with galactosaemia

N. L. Potter, J.-A. C. Lazarus, J. M. Johnson, R. D. Steiner, L. D. Shriberg

01.08.2008 | Original Article | Ausgabe 4/2008

FDG-PET findings in patients with galactosaemia

J. G. Dubroff, C. Ficicioglu, S. Segal, N. A. Wintering, A. Alavi, A. B. Newberg

01.08.2008 | Original Article | Ausgabe 4/2008

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

01.08.2008 | Letter to the Editor | Ausgabe 4/2008

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

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