Ausgabe 6/2000
Inhalt (12 Artikel)
Isolated and contiguous glycerol kinase gene disorders: A review
D. R. Sjarif, J. K. Ploos van Amstel, M. Duran, F. A. Beemer, B. T. Poll-The
Behaviour and school achievement in patients with early and continuously treated phenylketonuria
B. A. Stemerdink, A. F. Kalverboer, J. J. van der Meere, M. W. van der Molen, J. Huisman, L. W. A. de Jong, F. M. E. Slijper, P. H. Verkerk, F. J. van Spronsen
Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria
V. Leuzzi, M. C. Bianchi, M. Tosetti, Cl. Carducci, Ca. Carducci, I. Antonozzi
Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency
J. L. K. Van Hove, S. G. Kahler, M. D. Feezor, J. P. Ramakrishna, P. Hart, W. R. Treem, J.-J. Shen, D. Matern, D. S. Millington
Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cells
K. Ihara, A. Nomura, S. Hikino, H. Takada, T. Hara
Isolation and characterization of the normal canine β-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis
Z. H. Wang, B. Zeng, H. Shibuya, G. S. Johnson, J. Alroy, G. M. Pastores, S. Raghavan, E. H. Kolodny
Lovastatin does not correct the accumulation of very long-chain fatty acids in tissues of adrenoleukodystrophy protein-deficient mice
T. Yamada, N. Shinnoh, T. Taniwaki, Y. Ohyagi, H. Asahara, I. Horiuchi, J. Kira
Rolipram does not normalize very long-chain fatty acid levels in adrenoleukodystrophy protein-deficient fibroblasts and mice
A. Netik, A. Hobel, H. Rauschka, B. Molzer, S. Forss-Petter, J. Berger
Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children
J. Marin-Garcia, R. Ananthakrishnan, M. J. Goldenthal, M. E. Pierpont
False positive fructose loading: a pitfall in the diagnosis of fructose-1,6-bisphosphatase deficiency
A. M. Lund, J. V. Leonard
Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
J. Muroi, T. Yorifuji, A. Uematsu, T. Nakahata
Smith–Lemli–Opitz syndrome with extremely low plasma cholesterol
V. Bzdúch, D. Behúlová, L. Kozák, J. Škodová, E. Véghová, A. Dello Russo, G. Corso, F. Bauer