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Journal of Inherited Metabolic Disease

Ausgabe 5/2000

Inhalt (20 Artikel)

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

N. Gregersen, P. Bross, M. M. Jørgensen, T. J. Corydon, B. S. Andresen

Bone marrow transplantation for the treatment of X-linked adrenoleukodystrophy

Y. Suzuki, K. Isogai, T. Teramoto, H. Tashita, N. Shimozawa, M. Nishimura, T. Asano, M. Oda, A. Kamei, H. Ishiguro, S. Kato, T. Ohashi, H. Kobayashi, Y. Eto, N. Kondo

Short-term effect of captopril on microalbuminuria in children with glycogen storage disease type Ia

H. Özen, G. Ciliv, N. Koçak, İ. N. Saltik, A. Yüce, F. Gürakan

Regulation of cholesterol biosynthetic pathway in patients with the Smith–Lemli–Opitz syndrome

M. Honda, G. S. Tint, A. Honda, G. Salen, S. Shefer, A. K. Batta, Y. Matsuzaki, N. Tanaka

Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency

K. L. Chambliss, R. G. F. Gray, G. Rylance, R. J. Pollitt, K. M. Gibson

Reduction of large neutral amino acid concentrations in plasma and CSF of patients with maple syrup urine disease during crises

M. Wajner, D. M. Coelho, A. G. Barschak, P. R. Araújo, R. F. Pires, F. L. G. Lulhier, C. R. Vargas

I-cell disease complicated by unusual dilatative cardiomyopathy

P. Müller, H. Reichenbach, A. Möckel, P. Bührdel

Molecular basis of mild hyperphenylalaninaemia in Turkey

E. Yilmaz, F. Cali, V. Romano, I. Özalp, T. Coşkun, A. Tokatli, H. S. Kalkanoğlu, M. ÖzgüÇ

Methylenetetrahydrofolate reductase 677C>T mutation and epilepsy

H. Ono, A. Sakamoto, N. Mizoguchi, N. Sakura

Identification of a 5′ splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa

S. Uotani, H. Yamasaki, H. Takino, E. Kawasaki, H. Matsuo, S. Yamasaki, Y. Jinno, N. Niikawa, M. Ito, H. Sugie, Y. Yamaguchi, K. Eguchi

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