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Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 1/2004

Ausgabe 1/2004

Inhaltsverzeichnis ( 16 Artikel )

01.03.2004 | Editorial Introduction | Ausgabe 1/2004


01.03.2004 | Ausgabe 1/2004

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

01.03.2004 | Ausgabe 1/2004

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

01.03.2004 | Ausgabe 1/2004

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

01.03.2004 | Ausgabe 1/2004

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

01.03.2004 | Ausgabe 1/2004

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

01.03.2004 | Ausgabe 1/2004

Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome

R. A. Head, R. M. Brown, G. K. Brown

01.03.2004 | Ausgabe 1/2004

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

01.03.2004 | Ausgabe 1/2004

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

01.03.2004 | Ausgabe 1/2004

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

01.03.2004 | Ausgabe 1/2004

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

01.03.2004 | Ausgabe 1/2004

CDG IIx with unusual phenotype

D. Cheillan, S. Cognat, C. Dorche, J. Jaeken, C. Vianey-Saban, N. Guffon

01.03.2004 | Ausgabe 1/2004

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

01.03.2004 | Ausgabe 1/2004

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

01.03.2004 | Ausgabe 1/2004

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

01.03.2004 | Instructions for Authors | Ausgabe 1/2004

Instructions to Authors

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