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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 6/2001

Ausgabe 6/2001

Inhaltsverzeichnis ( 9 Artikel )

01.11.2001 | Ausgabe 6/2001

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

01.11.2001 | Ausgabe 6/2001

Acceptability of a new modular protein substitute for the dietary treatment of phenylketonuria

F. J. Rohr, A. W. Munier, H. L. Levy

01.11.2001 | Ausgabe 6/2001

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

01.11.2001 | Ausgabe 6/2001

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

01.11.2001 | Ausgabe 6/2001

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

01.11.2001 | Ausgabe 6/2001

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)

Ya. V. Voznyi, J. L. M. Keulemans, O. P. van Diggelen

01.11.2001 | Ausgabe 6/2001

Effect of ramipril in a patient with glycogen storage disease type I and nephrotic-range proteinuria

I. Pela, M. A. Donati, E. Zammarchi

01.11.2001 | Ausgabe 6/2001

Thiamin-responsive maple syrup urine disease: Seizures after 7 years of satisfactory metabolic control

D. Delis, H. Michelakakis, E. Katsarou, C. S. Bartsocas

01.11.2001 | Ausgabe 6/2001

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

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