Ausgabe 4/2009
Inhalt (16 Artikel)
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
U. Spiekerkoetter, M. Lindner, R. Santer, M. Grotzke, M. R. Baumgartner, H. Boehles, A. Das, C. Haase, J. B. Hennermann, D. Karall, H. de Klerk, I. Knerr, H. G. Koch, B. Plecko, W. Röschinger, K. O. Schwab, D. Scheible, F. A. Wijburg, J. Zschocke, E. Mayatepek, U. Wendel
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop
U. Spiekerkoetter, M. Lindner, R. Santer, M. Grotzke, M. R. Baumgartner, H. Boehles, A. Das, C. Haase, J. B. Hennermann, D. Karall, H. de Klerk, I. Knerr, H. G. Koch, B. Plecko, W. Röschinger, K. O. Schwab, D. Scheible, F. A. Wijburg, J. Zschocke, E. Mayatepek, U. Wendel
Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test
U. Langenbeck, P. Burgard, U. Wendel, M. Lindner, J. Zschocke
Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: Assessing responsiveness in a model of statistical process control
M. Lindner, G. Gramer, S. F. Garbade, P. Burgard
Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors
E. Martín-Hernández, P. J. Lee, A. Micciche, S. Grunewald, R. H. Lachmann
Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)
S. A. Jones, Z. Almássy, M. Beck, K. Burt, J. T. Clarke, R. Giugliani, C. Hendriksz, T. Kroepfl, L. Lavery, S.-P. Lin, G. Malm, U. Ramaswami, R. Tincheva, J. E. Wraith
Sleep-related breathing in children with mucopolysaccharidosis
A. Nashed, S. Al-Saleh, J. Gibbons, I. MacLusky, J. MacFarlane, A. Riekstins, J. Clarke, I. Narang
Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process
H. Hůlková, J. Ledvinová, H. Poupětová, A. Kohout, V. Malinová, M. Elleder
An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency
M. Arenas, L. D. Fairbanks, K. Vijayakumar, L. Carr, E. Escuredo, A. M. Marinaki
Coenzyme Q10 is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria
D. Haas, P. Niklowitz, F. Hörster, E. R. Baumgartner, C. Prasad, R. J. Rodenburg, G. F. Hoffmann, T. Menke, J. G. Okun
Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotype
Y. Suzuki, A. Aoyama, T. Kato, N. Shimozawa, T. Orii
In response to van Spronsen et al (2009) Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27–31)
Alberto Ponzone, Alessandro Mussa, Francesco Porta
Serum phenylalanine concentrations in patients post trauma and burn correlate to neopterin concentrations
S. Scholl-Buergi, G. Neurauter, D. Karall, D. Fuchs