Issue 6/2001
Content (9 Articles)
The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein in CHO cells
M. Mavinakere, H. Morizono, D. Shi, N. M. Allewell, M. Tuchman
Acceptability of a new modular protein substitute for the dietary treatment of phenylketonuria
F. J. Rohr, A. W. Munier, H. L. Levy
IGF-1 and bFGF reduce glutaric acid and 3-hydroxyglutaric acid toxicity in striatal cultures
K. B. Bjugstad, W. M. Zawada, S. I. Goodman, C. R. Freed
Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia
C. Bergwitz, A. Prochnau, B. Mayr, F.-J. Kramer, M. Rittierodt, H.-L. Berten, J.-E. Hausamen, G. Brabant
Characterization of altered myocardial fatty acid metabolism in patients with inherited cardiomyopathy
S. R. Bergmann, P. Herrero, R. Sciacca, J. J. Hartman, P. J. Rubin, K. T. Hickey, S. Epstein, D. P. Kelly
A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)
Ya. V. Voznyi, J. L. M. Keulemans, O. P. van Diggelen
Effect of ramipril in a patient with glycogen storage disease type I and nephrotic-range proteinuria
I. Pela, M. A. Donati, E. Zammarchi
Thiamin-responsive maple syrup urine disease: Seizures after 7 years of satisfactory metabolic control
D. Delis, H. Michelakakis, E. Katsarou, C. S. Bartsocas
Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation
Y. Campos, A. García, J. Eiris, M. Fuster, J. C. Rubio, M. A. Martín, P. del Hoyo, E. Pintos, M. Castro-Gago, J. Arenas