Journal of Inherited Metabolic Disease

Preface

Alterations of hepatic peroxisomes in tyrosinaemia type I: Return to fetal type?

I. Kerckaert, T. J. De Koning, B. T. Poll-The, F. Roels

Fanconi–Bickel syndrome – A congenital defect of the liver-type facilitative glucose transporter

R. Santer, R. Schneppenheim, A. Dombrowski, H. Götze, B. Steinmann, J. Schaub

Investigation of the copper binding sites in the Menkes disease protein, ATP7A

P. Y. Jensen, N. Bonander, B. G. Karlsson, N. Horn, Z. Tümer, O. Farver

Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease

Y. Murata, H. Kodama, Y. Mori, M. Kobayashi, T. Abe

Copper and ceruloplasmin metabolism in the LEC rat, an animal model for Wilson disease

H. Kodama, Y. Murata, Y.D. Mochizuki, Y.T. Abe

Phenotypic characterization of mice with targeted disruption of glycosylasparaginase gene: A mouse model for aspartylglycosaminuria

V. Kaartinen, I. Mononen, I. Gonzales-Gomez, T. Noronkoski, N. Heisterkamp, J. Groffen

The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: Tissue expression and mutation detection

J. Loeffen, R. Smeets, J. Smeitink, W. Ruitenbeek, A. Janssen, E. Mariman, R. Sengers, F. Trijbels, L. van den Heuvel

Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

D. Rabier, C. Diry, A. Rotig, P. Rustin, B. Heron, J. Bardet, P. Parvy, G. Ponsot, C. Marsac, J. M. Saudubray, A. Munnich, P. Kamoun

Dysregulation of the mitochondrial ATP-synthase in respiratory chain defects: First experience

A. M. Das, K. Ullrich

Pyruvate dehydrogenase E1α deficiency in a family: Different clinical presentation in two siblings

L. De Meirleir, N. Specola, S. Seneca1, W. Lissens

Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c

G. Visser, J. Herwig, J. P. Rake, K. E. Niezen-Koning, A. J. Verhoeven, G. P. A. Smit

Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: Two new mutations in the GALT gene which cause a GALT activity decrease by 40–50% of normal in red cells

Y. S. Shin, H. G. Koch, M. Köhler, G. Hoffmann, A. Patsoura, T. Podskarbi

Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: Influence of different phenylalanine hydroxylase mutations

M. Spada, I. Dianzani, G. Bonetti, A. Biondi, L. Leone, A. Ponzone

Aromatic L-amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings

N. G. G. M. Abeling, A. H. van Gennip, P. G. Barth, A. van Cruchten, M. Westra, F. A. Wijburg

Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi

C. Busquets, M. J. Coll, E. Christensen, J. Campistol, N. Clusellas, M. A. Vilaseca, A. Ribes

D-2-Hydroxyglutaric aciduria: Evidence of clinical and biochemical heterogeneity

L. Wagner, G. F. Hoffmann, C. Jakobs

L-2-Hydroxyglutaric aciduria and lactic acidosis

P. G. Barth, R. J. A. Wanders, H. R. Scholte, N. Abeling, C. Jakobs, R. B. H. Schutgens, P. Vreken

Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

K. M. Gibson, L. Sweetman, V. Kozich, A. Pijackova, A. Tscharre, A. Cortez, F. Eyskens, C. Jakobs, M. Duran, B. T. Poll-The

Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patient

M. Huizing, U. Wendel, W. Ruitenbeek, V. Iacobazzi, L. Ijlst, P. Veenhuizen, P. Savelkoul, L. P. van den Heuvel, J. A. M. Smeitink, R. J. A. Wanders, J. M. F. Trijbels, F. Palmieri

Disturbed metabolism of guanidino compounds characterized by elevated excretion of β-guanidinopropionic acid and γ-guanidinobutyric acid – An effect of vigabatrin treatment?

A. Schulze, E. Mayatepek, S. Frank, B. Marescau, P. P. De Deyn, P. Bachert

Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation

E. Christensen, I. Cezanne, S. KjÆrgaard, H. Hørlyk, V. Faurholt Pedersen, P. Vreken, A. B. P. van Kuilenburg, A. H. van Gennip

Dihydropyrimidine dehydrogenase deficiency: A novel mutation and expression of missense mutations in E. coli

P. Vreken, A. B. P. van Kuilenburg, R. Meinsma, F. A. Beemer, M. Duran, A. H. van Gennip

Severe 5-fluorouracil toxicity caused by reduced dihydropyrimidine dehydrogenase activity due to heterozygosity for a G→A point mutation

A. B. P. van Kuilenburg, P. Vreken, L. V. A. M. Beex, R. A. De Abreu, A. H. van Gennip

X-linked adrenoleukodystrophy: Improved prenatal diagnosis using both biochemical and immunological methods

R. J. A. Wanders, P. W. Mooyer, C. Dekker, P. Vreken

Molecular basis of Refsum disease: Identification of new mutations in the phytanoyl-CoA hydroxylase cDNA

G. A. Jansen, S. Ferdinandusse, O. H. Skjeldal, O. Stokke, C. J. De Groot, C. Jakobs, R. J. A. Wanders

Lipoxygenase metabolites in amniotic fluid of patients with Zellweger syndrome

E. Mayatepek, C. Jakobs

Defective oxidation of hydroxyeicosatetraenoic acids in the liver of patients with Zellweger syndrome

E. Mayatepek, R. J. A. Wanders

Bifunctional protein deficiency: Complementation within the same group suggesting differential enzyme defects and clues to the underlying basis

E. G. van Grunsven, E. van Berkel, H. Lemonde, P. T. Clayton, R. J. A. Wanders

Identification of the newly discovered 58kDa peroxisomal thiolase SCPx as the main thiolase involved in both pristanic acid and trihydroxycholestanoic acid oxidation: Implications for peroxisomal β-oxidation disorders

R. J. A. Wanders, S. Denis, E. van Berkel, F. Wouters, K. W. A. Wirtz, U. Seedorf

Molecular basis of rhizomelic chondrodysplasia punctata type I: High frequency of the Leu-292 Stop mutation in 38 patients

P. Brites, A. Motley, E. Hogenhout, E. Hettema, F. Wijburg, H. S. A. Heijmans, H. F. Tabak, B. Distel, R. J. A. Wanders

Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: Mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata

R. J. A. Wanders, G. J. Romeijn

Localization of receptors for endocytosis of lysosomal enzymes on different brain cells

P. Schluff, B. Flott-Rahmel, V. Gieselmann, P. Zimmer, A. Das, K. Ullrich