Issue 4/2004
Content (18 Articles)
The role of oxidative damage in the neuropathology of organic acidurias: Insights from animal studies
M. Wajner, A. Latini, A. T. S. Wyse, C. S. Dutra-Filho
Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria
R. Steinfeld, A. Kohlschütter, K. Ullrich, Z. Lukacs
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations
B. Garavaglia, F. Invernizzi, M. L. Agostoni Carbone, V. Viscardi, F. Saracino, D. Ghezzi, M. Zeviani, G. Zorzi, N. Nardocci
Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening
N. Napolitano, V. Wiley, J. J. Pitt
OCTN2 mutation (R254X) found in Saudi Arabian kindred: Recurrent mutation or ancient founder mutation?
A.-M. Lamhonwah, R. Onizuka, S. E. Olpin, F. Muntoni, I. Tein
Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex
D. G. Ramadan, R. A. Head, A. Al-Tawari, Y. Habeeb, M. Zaki, F. Al-Ruqum, G. T. N. Besley, J. E. Wraith, R. M. Brown, G. K. Brown
Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases
J. Panetta, L. J. Smith, A. Boneh
Relief of gastrointestinal symptoms under enzyme replacement therapy in patients with Fabry disease
F. Dehout, D. Roland, S. Treille de Granseigne, B. Guillaume, L. Van Maldergem
Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency
G. M. Enns, A. J. Barkovich, A. B. P. van Kuilenburg, M. Manning, T. Sanger, D. R. Witt, A. H. van Gennip
New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: Molecular and functional analysis
H. Francová, M. Trbušek, P. Zapletalová, V. Kuhrová
The third case of Doss porphyria (δ-amino-levulinic acid dehydratase deficiency) in Germany
M. O. Doss, T. Stauch, U. Gross, M. Renz, R. Akagi, M. Doss-Frank, H. P. Seelig, S. Sassa
Successful pregnancy after combined renal–hepatic transplantation in glycogen storage disease type Ia
P. J. Lee, P. Muiesan, N. Heaton
The benefits of liver transplantation in glycogenosis type Ib
K. Bhattacharya, N. Heaton, M. Rela, J. H. Walter, P. J. Lee
Early cirrhosis in a patient with type I citrullinaemia (CTLN1)
Ş. Güçer, E. Aşan, P. Atilla, A. Tokatl, M. Çağlar
Kelley–Seegmiller syndrome due to a new variant of the hypoxanthine–guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille)
B. Dussol, I. Ceballos-Picot, B. Aral, V. Castera, N. Philip, Y. Berland