Ausgabe 2/2000
Inhalt (13 Artikel)
Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia
P. Trioche, J. Francoual, L. Capel, M. Odièvre, A. Lindenbaum, P. Labrune
Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)-rich triglycerides
R. Barmaki Pour, S. Stöckler-Ipsiroglu, D. H. Hunneman, M. Gahr, G. C. Korenke, W. Pabst, F. Hanefeld, A. Peters
Novel mutations cause biotinidase deficiency in Turkish children
R. J. Pomponio, T. Coskun, M. Demirkol, A. Tokatli, I. Ozalp, G. Hüner, T. Baykal, B. Wolf
Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia
V. Praphanproj, S. A. Boyadjiev, L. J. Waber, S. W. Brusilow, M. T. Geraghty
Pulmonary hypertension associated with nonketotic hyperglycinaemia
S. Çataltepe, L. J. van Marter, H. Kozakewich, D. L. Wessel, P. J. Lee, H. L. Levy
Multiple mtDNA deletions: Clinical and molecular correlations
F. M. Santorelli, G. De Joanna, C. Casali, A. Tessa, G. Siciliano, G. A. Amabile, F. Pierelli, L. Vilarinho, L. Santoro
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1
F. Imtiaz, V. Worthington, M. Champion, C. Beesley, J. Charlwood, P. Clayton, G. Keir, N. Mian, B. Winchester
The increased sensitivity of neurons with elevated glucocerebroside to neurotoxic agents can be reversed by imiglucerase
D. Pelled, H. Shogomori, A. H. Futerman
Novel mutations in children with profound biotinidase deficiency from Saudi Arabia
R. J. Pomponio, P. T. Ozand, M. Al Essa, B. Wolf
Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure
M. J. M. Nowaczyk, D. Whelan, R. E. Hill, J. T. C. Clarke, R. J. Pollitt