Ausgabe 5/2000
Inhalt (20 Artikel)
Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders
N. Gregersen, P. Bross, M. M. Jørgensen, T. J. Corydon, B. S. Andresen
Proceedings of the 4th International Workshop of the Adrenoleukodystrophy International Research Group (ALD-IRG), University of York, 3 September 1998
S. Alger, A. Green, W. Köhler, P. Sokolowski, H. Moser
Bone marrow transplantation for the treatment of X-linked adrenoleukodystrophy
Y. Suzuki, K. Isogai, T. Teramoto, H. Tashita, N. Shimozawa, M. Nishimura, T. Asano, M. Oda, A. Kamei, H. Ishiguro, S. Kato, T. Ohashi, H. Kobayashi, Y. Eto, N. Kondo
Short-term effect of captopril on microalbuminuria in children with glycogen storage disease type Ia
H. Özen, G. Ciliv, N. Koçak, İ. N. Saltik, A. Yüce, F. Gürakan
Regulation of cholesterol biosynthetic pathway in patients with the Smith–Lemli–Opitz syndrome
M. Honda, G. S. Tint, A. Honda, G. Salen, S. Shefer, A. K. Batta, Y. Matsuzaki, N. Tanaka
Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls
J. Weglage, M. Grenzebach, M. Pietsch, R. Feldmann, R. Linnenbank, J. Denecke, H. G. Koch
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency
K. L. Chambliss, R. G. F. Gray, G. Rylance, R. J. Pollitt, K. M. Gibson
Reduction of large neutral amino acid concentrations in plasma and CSF of patients with maple syrup urine disease during crises
M. Wajner, D. M. Coelho, A. G. Barschak, P. R. Araújo, R. F. Pires, F. L. G. Lulhier, C. R. Vargas
Very high plasma leucine concentrations without neurological symptoms in a patient with classical maple syrup urine disease
D. Skladal, G. Grissenauer, V. Konstantopoulou, S. Felber, W. Sperl
I-cell disease complicated by unusual dilatative cardiomyopathy
P. Müller, H. Reichenbach, A. Möckel, P. Bührdel
Arginase deficiency presenting with cerebral oedema and failure to thrive
J. W. Harrington, M. Stiefel, E. Gianos
The HELLP syndrome associated with fetal medium-chain acyl-CoA dehydrogenase deficiency
J. Nelson, B. Lewis, B. Walters
Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria
C. Randak, W. Röschinger, B. Rolinski, H.-B. Hadorn, D. A. Applegarth, A. A. Roscher
Molecular basis of mild hyperphenylalaninaemia in Turkey
E. Yilmaz, F. Cali, V. Romano, I. Özalp, T. Coşkun, A. Tokatli, H. S. Kalkanoğlu, M. ÖzgüÇ
Methylenetetrahydrofolate reductase 677C>T mutation and epilepsy
H. Ono, A. Sakamoto, N. Mizoguchi, N. Sakura
Identification of a 5′ splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa
S. Uotani, H. Yamasaki, H. Takino, E. Kawasaki, H. Matsuo, S. Yamasaki, Y. Jinno, N. Niikawa, M. Ito, H. Sugie, Y. Yamaguchi, K. Eguchi