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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 2/2002

Ausgabe 2/2002

Inhaltsverzeichnis ( 9 Artikel )

01.05.2002 | Ausgabe 2/2002

3-Hydroxyglutarate excretion is increased in ketotic patients: Implications for glutaryl-CoA dehydrogenase deficiency testing

J. Pitt, K. Carpenter, B. Wilcken, A. Boneh

01.05.2002 | Ausgabe 2/2002

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

01.05.2002 | Ausgabe 2/2002

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

01.05.2002 | Ausgabe 2/2002

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

01.05.2002 | Ausgabe 2/2002

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

01.05.2002 | Ausgabe 2/2002

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

01.05.2002 | Ausgabe 2/2002

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

01.05.2002 | Ausgabe 2/2002

Successful pregnancy in a woman with mut− methylmalonic acidaemia

F. Deodato, C. Rizzo, S. Boenzi, F. Baiocco, G. Sabetta, C. Dionisi-Vici

01.05.2002 | Ausgabe 2/2002

Treatment of extrapyramidal symptoms in a patient with homozygous homocystinuria

A. P. Burlina, C. Edini, A. B. Burlina

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