Issue 6/2002
Content (16 Articles)
Short-term dietary interventions in children and adolescents with treated phenylketonuria: Effects on neuropsychological outcome of a well-controlled population
S. C. J. Huijbregts, L. M. J. De Sonneville, R. Licht, F. J. Van Spronsen, J. A. Sergeant
Individual blood–brain barrier phenylalanine transport in siblings with classical phenylketonuria
J. Weglage, D. Wiedermann, J. Denecke, R. Feldmann, H.-G. Koch, K. Ullrich, H. E. Möller
Hartnup disorder: Polymorphisms identified in the neutral amino acid transporter SLC1A5
S. J. Potter, A. Lu, B. Wilcken, K. Green, J. E. J. Rasko
Introduction of a ketogenic diet in young infants
J. Klepper, B. Leiendecker, R. Bredahl, S. Athanassopoulos, F. Heinen, E. Gertsen, A. Flörcken, A. Metz, T. Voit
CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families
P. Zavaď'áková, B. Fowler, J. Zeman, T. Suormala, K. Pšistoupilová, V. Kožich
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man
S. E. Olpin, R. J. Pollitt, J. Mcmenamin, N. J. Manning, G. Besley, J. P. N. Ruiter, R. J. A. Wanders
Glutaric aciduria type III: A distinctive non-disease?
I. Knerr, J. Zschocke, U. Trautmann, L. Dorland, T. J. de Koning, P. Müller, E. Christensen, F. K. Trefz, G. F. Wündisch, W. Rascher, G. F. Hoffmann
Niemann–Pick disease type C in adults
J. Imrie, S. Vijayaraghaven, C. Whitehouse, S. Harris, L. Heptinstall, H. Church, A. Cooper, G. T. N. Besley, J. E. Wraith
Mutations in the sterol 27-hydoxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis
P. T. Clayton, A. Verrips, E. Sistermans, A. Mann, G. Mieli-Vergani, R. Wevers
Ramipril treatment in a patient with glycogen storage disease I non-A
M. L. Giannì, M. Bonvissuto, M. Gallieni, C. Testolin, E. Racchi, E. Riva
Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins
I. A. Aligianis, P. A. Farndon, R. G. F. Gray, S. K. Heath, M. Kilby, K. M. Gibson, S. Akaboshi
Selective screening of amino acid disorders in the south-west of Iran, Shiraz
J. Golbahar, Z. Karamizadeh, Z. Honardar
Unknown peaks in GC-MS analyses of Guthrie cards blood samples might be the result of sample contamination by the black markings of the card
T. G. Brune, A. Ch. Lambrecht, H. G. Koch
Mutation screening for tyrosinaemia type I
S. K. Heath, R. G. F. Gray, P. McKiernan, K. M. Au, E. Walker, A. Green
A novel mutation in the gene for canine acid β-galactosidase that causes GM1-gangliosidosis in Shiba dogs
O. Yamato, D. Endoh, A. Kobayashi, Y. Masuoka, M. Yonemura, A. Hatakeyama, H. Satoh, M. Tajima, M. Yamasaki, Y. Maede