Ausgabe 8/2000
Inhalt (17 Artikel)
Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia
N. Weiss, G. Binder, C. Keller
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I
S. Z. Kim, K. G. Kupke, L. Ierardi-Curto, E. Holme, J. Greter, R. M. Tanguay, J. Poudrier, M. D'Astous, F. Lettre, S. H. Hahn, H. L. Levy
Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation
A. Bodner-Leidecker, U. Wendel, J-M. Saudubray, P. Schadewaldt
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation
P. De Lonlay, M. C. Nassogne, A. H. van Gennip, A. C. van Cruchten, T. Billette de Villemeur, M. Cretz, C. Stoll, J. M. Launay, G. C. V. Steenberger-Spante, L. P. W. van den Heuvel, R. A. Wevers, J. M. Saudubray, N. G. G. M. Abeling
Trifunctional protein deficiency: Three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation
A. Chakrapani, S. Olpin, M. Cleary, J. H. Walter, J. E. Wraith, G. T. N. Besley
Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall
N. M. Verhoeven, W. S. Guérand, E. A. Struys, A. A. Bouman, M. S. van der Knaap, C. Jakobs
Neuroleptic malignant syndrome in a patient with citrullinaemia
A. Dursun, Y. Yilmaz, M. Özsari, N. Kandemir, T. Coşkun
Ornithine carbamoyltransferase deficiency presenting with chorea in a female
E. J. Wiltshire, N. K. Poplawski, M. G. Harbord, R. J. Harrison, J. M. Fletcher
Holocarboxylase synthetase deficiency: Urinary metabolites masked by gross ketosis
K. H. Carpenter, B. Wilcken, J. Christodoulou, D. R. Thorburn
Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome
B. K. Goodman, J. Rutberg, W. W. Lin, A. E. Pulver, G. H. Thomas, M. T. Geraghty
Prolactin, a marker for cerebral dopamine deficiency in patients suffering from phenylketonuria (PKU)?
J. Denecke, W. Schlegel, H. G. Koch, R. Feldmann, E. Harms, J. Weglage
A novel mutation in the glucose-6-phosphatase gene in Korean twins with glycogen storage disease type Ia
M. Goto, T. Taki, H. Sugie, Y. Miki, H. Kato, Y. Hayashi
A novel mitochondrial transfer RNA proline mutation
S. Seneca, W. Lissens, C. Ceuterick-De Groote, R. Van Coster, L. De Meirleir