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Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 8/2003

Ausgabe 8/2003

Inhaltsverzeichnis ( 11 Artikel )

01.02.2003 | Ausgabe 8/2003

Clinical features of galactokinase deficiency:A review of the literature

A. M. Bosch, H. D. Bakker, A. H. van Gennip, J. V. van Kempen, R. J. A. Wanders, F. A. Wijburg

01.02.2003 | Ausgabe 8/2003

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia

P. Briones, M. A. Vilaseca, E. Schollen, I. Ferrer, M. Maties, C. Busquets, R. Artuch, L. Gort, M. Marco, E. van Schaftingen, G. Matthijs, J. Jaeken, A. Chabás

01.02.2003 | Ausgabe 8/2003

Pathological structure of the kidney from adult mice with mosaic mutation

M. Lenartowicz, M. Kowal, D. Buda-Lewandowska, J. Styrna

01.02.2003 | Ausgabe 8/2003

Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation

S. Z. Kim, E. Santamaria, T. E. Jeong, H. L. Levy, J. M. Mato, F. J. Corrales, S. H. Mudd

01.02.2003 | Ausgabe 8/2003

Blood mononuclear cell coenzyme Q10 concentration and mitochondrial respiratory chain succinate cytochrome-c reductase activity in phenylketonuric patients

I. P. Hargreaves, S. J. R. Heales, A. Briddon, J. M. Land, P. J. Lee

01.12.2003 | Ausgabe 8/2003

The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment

C. Robinson, N. Baker, J. Noble, A. King, G. David, D. Sillence, P. Hofman, T. Cundy

01.02.2003 | Ausgabe 8/2003

A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease

Th. Kroepfl, K. Paul, P. Kotanko, B. Plecko, E. Paschke

01.02.2003 | Ausgabe 8/2003

Case Report: Second case of a successful pregnancy in maternal isovaleric acidaemia

S. Spinty, H. Rogozinski, G. T. Lealman, J. E. Wraith

01.02.2003 | Ausgabe 8/2003

Short Report: Plasma pipecolic acid is frequently elevated in non-peroxisomal disease

J. C. M. Baas, R. van de Laar, L. Dorland, M. Duran, R. Berger, B. T. Poll-The, T. J. de Koning

01.02.2003 | Authors Index | Ausgabe 8/2003

Author Index to Volume 25

01.02.2003 | Subject Index | Ausgabe 8/2003

Subject Index to Volume 25

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