Ausgabe 1/1998
Inhalt (21 Artikel)
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene
C. Dionisi-Vici, S. Seneca, M. Zeviani, G. Fariello, M. Rimoldi, E. Bertini, L. De Meirleir
Pyruvate dehydrogenase complex deficiency and absence of subunit X
L. De Meirleir, W. Lissens, C. Benelli, C. Marsac, J. De Klerk, J. Scholte, O. Van Diggelen, W. Kleijer, S. Seneca, I. Liebaers
The association of protein-losing enteropathy with cobalamin C defect
C. Ellaway, J. Christodoulou, R. Kamath, K. Carpenter, B. Wilcken
Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase : 3-hydroxyacyl-CoA dehydrogenase cDNA
S. Fukuda, Y. Suzuki, N. Shimozawa, Z. Zhang, T. Orii, T. Aoyama, T. Hashimoto, N. Kondo
Neuropsychological outcome of experimental manipulation of phenylalanine intake in treated phenylketonuria
P. Griffiths, N. Ward, A. Harvie, F. Cockburn
Neonatal neurological assessment of offspring in maternal phenylketonuria
S.E. Waisbren, P. Chang, H. L. Levy, H. Shifrin, E. Allred, C. Azen, F. de la Cruz, W. Hanley, R. Koch, R. Matalon, B. Rouse
Oligosaccharide excretion in adult Gaucher disease
J. G. N. de Jong, J. M. F. G. Aerts, S. van Weely, C. E. M. Hollak, J. van Pelt, L. M. J. van Woerkom, M. L. F. Liebrand-van Sambeek, R. A. Wevers
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)
K. Isogai, K. Sukegawa, S. Tomatsu, T. Fukao, X-Q. Song, Y. Yamada, S. Fukuda, T. Orii, N. Kondo
Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity
M. Staudt, B. Wermuth, P. Freisinger, A. Hässler, B. F. Pontz
Complex I deficiency in association with structural abnormalities of the diaphragm and brain
C. Ellaway, K. North, S. Arbuckle, J. Christodoulou
Neurological outcome of a patient with Gaucher disease type III treated by enzymatic replacement therapy
D. Dobbelaere, S. Sukno, S. Defoort-Dhellemmes, M.-D. Lamblin, C. Largillière
Fatal neonatal malonic aciduria
B. Buyukgebiz, C. Jakobs, H.R. Scholte, J. G. M. Huijmans, W. J. Kleijer
Phosphomannomutase deficiency and normal pubertal development
J. Artigas, E. Cardo, M. Pineda, R. Nosas, J. Jaeken
Increased resting energy expenditure in glycogen storage disease type Ia
F. Feillet, O. A. F. Bodamer, J. V. Leonard
In vivo NMR spectroscopy in patients with phenylketonuria: Clinical significance of interindividual differences in brain phenylalanine concentrations
J. Weglage, H. E. Möller, D. Wiedermann, S. Cipcic-Schmidt, J. Zschocke, K. Ullrich
Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency
N. Sakura, H. Ono, S. Nomura, H. Ueda, N. Fujita
Increased urine methylmalonic acid excretion in infants with apnoeas
R. Artuch, M. Calvo, A. Ribes, F. Camarasa, M. A. Vilaseca