Issue 6/2003
Content (13 Articles)
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement
T. M. Cox, J. M. F. G. Aerts, G. Andria, M. Beck, N. Belmatoug, B. Bembi, R. Chertkoff, S. Vom Dahl, D. Elstein, A. Erikson, M. Giralt, R. Heitner, C. Hollak, M. Hrebicek, S. Lewis, A. Mehta, G. M. Pastores, A. Rolfs, M. C. Sa Miranda, A. Zimran
Reversible posterior leukoencephalopathy syndrome in a child with cerebral X-linked adrenoleukodystrophy treated with cyclosporine after bone marrow transplantation
A. K. J. Chan, R. Bhargava, S. Desai, A. Joffe
Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies
C. T. Lundy, J. P. H. Shield, E. A. Kvittingen, O. J. Vinorum, E. R. Trimble, A. A. M. Morris
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency
S. E. Olpin, A. Afifi, S. Clark, N. J. Manning, J. R. Bonham, A. Dalton, J. V. Leonard, J. M. Land, B. S. Andresen, A. A. Morris, F. Muntoni, D. Turnbull, M. Pourfarzam, S. Rahman, R. J. Pollitt
GLUT-1 deficiency without epilepsy—an exceptional case
W. C. G. Overweg-Plandsoen, J. E. M. Groener, D. Wang, W. Onkenhout, O. F. Brouwer, H. D. Bakker, D. C. De Vivo
A description of an HPLC assay of coproporphyrinogen III oxidase activity in mononuclear cells
U. Gross, R. Gerlach, A. Kühnel, V. Seifert, M. O. Doss
Towards quality assurance in the determination of lysosomal enzymes: A two-centre study
Z. Lukacs, A. Keil, V. Peters, A. Kohlschütter, G. F. Hoffmann, M. Cantz, J. Kopitz
Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed withmedium-chain triglycerides
A. Muth, A. Mosandl, R. J. A. Wanders, M. J. M. Nowaczyk, I. Baric, H. Böhles, A. C. Sewell
Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene
O. Grafakou, F. A. Hol, K. Otfried Schwab, M. H. Siers, H. Ter Laak, F. Trijbels, R. Ensenauer, C. Boelen, J. Smeitink
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay
J. Häberle, J. Denecke, E. Schmidt, H. G. Koch
Neuroleptic malignant syndrome in juvenile neuronal ceroid lipofuscinosis associated with low-dose risperidone therapy
L. Vercammen, G. M. Buyse, J. E. F. Proost, J. L. K. Van Hove
Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2
U. Spiekerkoetter, G. Huener, T. Baykal, M. Demirkol, M. Duran, R. Wanders, J. Nezu, E. Mayatepek