Journal of Inherited Metabolic Disease

Treating glucosphingolipid disorders by chemotherapy: Use of approved drugs and over-the-counter remedies

N. S. Radin

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

James F. Crow, William F. Dove (Editors), Perspectives on GENETICS: Anecdotal, historical and critical commentaries – 1987–1998

Charles R. Scriver

Author Index to Volume 23

Subject Index to Volume 23