Ausgabe 2/2002
Inhalt (9 Artikel)
3-Hydroxyglutarate excretion is increased in ketotic patients: Implications for glutaryl-CoA dehydrogenase deficiency testing
J. Pitt, K. Carpenter, B. Wilcken, A. Boneh
Maple syrup urine disease: Mutation analysis in Turkish patients
A. Dursun, M. Henneke, K. Özgül, J. Gartner, T. Coşkun, A. Tokatli, H. S. Kalkanoğlu, M. Demirkol, U. Wendel, İ. Özalp
Gas chromatographic–mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples
T. Kuhara, M. Ohse, Y. Inoue, T. Yorifuji, N. Sakura, H. Mitsubuchi, F. Endo, J. Ishimatu
Vitamin C therapy ameliorates vascular endothelial dysfunction in treated patients with homocystinuria
C. H. Pullin, J. R. Bonham, I. F. W. McDowell, P. J. Lee, H. J. Powers, J. F. Wilson, M. J. Lewis, S. J. Moat
Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids
T. J. De Koning, M. Duran, L. Van Maldergem, M. Pineda, L. Dorland, R. Gooskens, J. Jaeken, B. T. Poll-The
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy
V. Prietsch, V. Peters, R. Hackler, R. Jakobi, B. Assmann, J. Fang, C. Körner, A. Helwig-Rolig, J. R. Schaefer, G. F. Hoffmann
Failure of resting echocardiography and cardiac catheterization to identify pulmonary hypertension in two patients with type I Gaucher disease
S. Sirrs, J. Irving, G. McCauley, K. Gin, B. Munt, G. Pastores, P. Mistry
Successful pregnancy in a woman with mut− methylmalonic acidaemia
F. Deodato, C. Rizzo, S. Boenzi, F. Baiocco, G. Sabetta, C. Dionisi-Vici
Treatment of extrapyramidal symptoms in a patient with homozygous homocystinuria
A. P. Burlina, C. Edini, A. B. Burlina