Ausgabe 8/1998
Inhalt (14 Artikel)
The success of dietary protein restriction in alkaptonuria patients is age-dependent
V. de Haas, E. C. Carbasius Weber, J. B. C. de Klerk, H. D. Bakker, G. P. A. Smit, W. A. R. Huijbers, M. Duran, B. T. Poll-The
One-methyl group metabolism in non-ketotic hyperglycinaemia: Mildly elevated cerebrospinal fluid homocysteine levels
J. L. K. Van Hove, F. Lazeyras, S. H. Zeisel, T. Bottiglieri, K. Hyland, H. C. Charles, L. Gray, J. Jaeken, S. G. Kahler
Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?
L. Thuillier, B. Chadefaux-Vekemans, J. P. Bonnefont, A. Kara, J. Aupetit, C. Rochette, G. Montalescot, M. C. Couty, P. Kamoun, A. Ankri
Four novel mutations at the cystathionine β-synthase locus causing homocystinuria
M. Coudé, J. Aupetit, M. T. Zabot, P. Kamoun, B. Chadefaux-Vekemans
Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations
M. E. Vázquez-Memije, S. Shanske, F. M. Santorelli, P. Kranz-Eble, D. C. DeVivo, S. DiMauro
Biochemical monitoring of the treatment in paediatric patients with mitochondrial disease
R. Artuch, M. A. Vilaseca, M. Pineda
Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1
H. Hirono, Y. Shoji, T. Takahashi, W. Sato, E. Takeda, T. Nishijo, Y. Kuroda, T. Nishigaki, K. Inui, G. Takada
Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann–Pick type C phenotype
G. S. Tint, P. Pentchev, G. Xu, A. K. Batta, S. Shefer, G. Salen, A. Honda
Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism
A. B. Burlina, K. M. Gibson, W. Ruitenbeek, L. Bonafè, M. J. Bennett
N-Acetylglutamate synthetase deficiency: Favourable experience with carbamylglutamate
A. A. M. Morris, S. W. J. Richmond, S. J. Oddie, M. Pourfarzam, V. Worthington, J. V. Leonard
Unusual pure motor axonal neuropathy in a Burmese family with galactosialidosis
E. K. Tan, M. C. Wong, I. Ng, S. H. Teo, Y. L. Lo, M. M. Cho
Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency
O. Sakamoto, Y. Suzuki, Y. Aoki, X. Li, M. Hiratsuka, K. Yanagihara, K. Inui, T. Okabe, S. Yamaguchi, J. Kudoh, N. Shimizu, K. Narisawa