Issue 1/2004
Content (16 Articles)
Editorial
Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX
J. Cabrera-Abreu, N. J. Crabtree, E. Elias, W. Fraser, R. Cramb, S. Alger
Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: Clinical significance of portal vein imaging
Y. Nishimura, G. Tajima, A. Dwi Bahagia, A. Sakamoto, H. Ono, N. Sakura, K. Naito, M. Hamakawa, C. Yoshii, M. Kubota, K. Kobayashi, T. Saheki
Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors
J. Hessels, G. Voortman, A. van der Wagen, C. van der Elzen, H. Scheffer, F. M. J. Zuijderhoudt
A family showing recessively inherited multisystem pathology with aberrant splicing of the erythrocyte Band 7.2b ('stomatin') gene
A. C. Argent, M. C. Chetty, B. Fricke, Y. Bertrand, N. Philippe, S. Khogali, M. von Düring, J. Delaunay, G. W. Stewart
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA
L. J. A. M. Jacobs, R. J. E. Jongbloed, F. A. Wijburg, J. B. C. de Klerk, J. P. M. Geraedts, J. G. Nijland, H. R. Scholte, I. F. M. de Coo, H. J. M. Smeets
Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome
R. A. Head, R. M. Brown, G. K. Brown
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: Is there a potential effect of copper?
P. Freisinger, R. Horvath, C. Macmillan, J. Peters, M. Jaksch
Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: A relationship between genotype and biochemical phenotype?
D. C. Lehotay, J. LePage, J. R. Thompson, C. Rockman-Greenberg
The distribution of white blood cell fat oxidation in health and disease
D. R. Pendergast, N. M. Fisher, K. Meksawan, M. Doubrava, G. D. Vladutiu
Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient
M. C. Schiaffino, A. R. Fantasia, G. Minniti, U. Caruso, F. Carnevale, R. Cerone
CDG IIx with unusual phenotype
D. Cheillan, S. Cognat, C. Dorche, J. Jaeken, C. Vianey-Saban, N. Guffon
Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy
M. A. Kurian, S. Ryan, G. T. N. Besley, R. J. A. Wanders, M. D. King
Tay–Sachs disease in Brazilian patients: Prevalence of the IVS7+1g>c mutation
R. Rozenberg, A. M. Martins, C. Micheletti, Z. Mustacchi, L. V. Pereira
Energy expenditure in patients with propionic and methylmalonic acidaemias
C. C. van Hagen, E. Carbasius Weber, Th. A .M. van den Hurk, J. H. Oudshoorn, L. Dorland, R. Berger, T. de Koning