Ausgabe 1/2001
Inhalt (16 Artikel)
Phenylketonuria: Tyrosine beyond the phenylalanine-restricted diet
F. J. van Spronsen, P. G. A. Smit, R. Koch
Ornithine carbamoyltransferase deficiency: Improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes
M. Potter, J. W. Hammond, K.-G. Sim, A. K. Green, B. Wilcken
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain
I. Wittig, P. Augstein, G. K. Brown, T. Fujii, A. Rötig, P. Rustin, A. Munnich, P. Seibel, D. Thorburn, B. Wissinger, K. Tamboom, A. Metspalu, E. Lamantea, M. Zeviani, M. S. Wehnert
Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone
T. Lerman-Sagie, P. Rustin, D. Lev, M. Yanoov, E. Leshinsky-Silver, A. Sagie, T. Ben-Gal, A. Munnich
Features of carnitine palmitoyltransferase type I deficiency
S. E. Olpin, J. Allen, J. R. Bonham, S. Clark, P. T. Clayton, J. Calvin, M. Downing, K. Ives, S. Jones, N. J. Manning, R. J. Pollitt, S. J. Standing, M. S. Tanner
Genetic analysis of phytosterolaemia
M. Togo, T. Toda, L. A. Nguyen, S. Kubota, K. Tsukamoto, H. Satoh, M. Hara, N. Iso-o, H. Noto, S. Kimura, K. Nakahara, Y. Seyama, Y. Hashimoto
Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile
K. G. Sim, V. Wiley, K. Carpenter, B. Wilcken
Survival of two patients with severe δ-aminolaevulinic acid dehydratase deficiency porphyria
U. Gross, S. Sassa, T. Arndt, M. O. Doss
Peripheral and autonomic nervous system involvement in chronic GM2-gangliosidosis
M. S. Salman, J. T. R. Clarke, G. Midroni, M. B. Waxman
Congenital porto–left renal venous shunt as a cause of galactosaemia
N. Mizoguchi, N. Sakura, H. Ono, K. Naito, M. Hamakawa
Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation
P. Briones, M. Girós, V. Martinez
A new case of succinyl-CoA:acetoacetate transferase deficiency: Favourable course despite very low residual activity
I. Barić, V. Sarnavka, K. Fumić, M. Maradin, D. Begović, J. P. N. Ruiter, R. J. A. Wanders
Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations
M. J. Coll, C. Antón, A. Chabás
Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis
J. Rudolfová, R. Slováčková, M. Trbušek, K. Pešková, S. Št'astná, L. Kozák
Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency
B. Herzog, A. A. M. Morris, C. Saunders, K. Eschrich
Metabolic Diseases: Foundations of Clinical Management, Genetics and Pathology
E. Gilbert-Barness, L. Barness