Ausgabe 4/1999
Inhalt (20 Artikel)
Functional magnetic resonance imaging: Clinical applications and potential
P. M. Matthews, S. Clare, J. Adcock
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
R. A. Wevers, J. F. de Rijk-van Andel, C. Bräutigam, B. Geurtz, L. P. W. J. van den Heuvel, G. C. H. Steenbergen-Spanjers, J. A. M. Smeitink, G. F. Hoffmann, F. J. M. Gabreëls
Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy
G. F. Hoffmann, J. Zschocke
Glutaric aciduria type I: Pathomechanisms of neurodegeneration
K. Ullrich, B. Flott-Rahmel, P. Schluff, U. Musshoff, A. Das, T. Lücke, R. Steinfeld, E. Christensen, C. Jakobs, A. Ludolph, A. Neu, R. Röper
D-2-Hydroxyglutaric aciduria: Further clinical delineation
M. S. van der Knaap, C. Jakobs, G. F. Hoffmann, M. Duran, A. C. Muntau, S. Schweitzer, R. I. Kelley, F. Parrot-Roulaud, J. Amiel, P. De Lonlay, D. Rabier, O. Eeg-Olofsson
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency
L. K. Medina-Kauwe, A. J. Tobin, L. De Meirleir, J. Jaeken, C. Jakobs, W. L. Nyhan, K. M. Gibson
Defects in activation and transport of fatty acids
M. Brivet, A. Boutron, A. Slama, C. Costa, L. Thuillier, F. Demaugre, D. Rabier, J. M. Saudubray, J. P. Bonnefont
Disorders of mitochondrial fatty acyl-CoA β-oxidation
R. J. A. Wanders, P. Vreken, M. E. J. den Boer, F. A. Wijburg, A. H. Van Gennip, L. IJlst
Recognition and management of fatty acid oxidation defects: A series of 107 patients
J. M. Saudubray, D. Martin, P. De Lonlay, G. Touati, F. Poggi-Travert, D. Bonnet, P. Jouvet, M. Boutron, A. Slama, C. Vianey-Saban, J. P. Bonnefont, D. Rabier, P. Kamoun, M. Brivet
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients
O. N. Elpeleg, A. Shaag
The neuronal ceroid-lipofuscinoses (Batten disease): A new class of lysosomal storage diseases
M. J. Bennett, S. L. Hofmann
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
P. G. Barth, R. J. A. Wanders, P. Vreken, E. A. M. Janssen, J. Lam, F. Baas
Population newborn screening for inherited metabolic disease: Current UK perspectives
A. Green, R. J. Pollitt