Journal of Inherited Metabolic Disease

Preface

Urinary uracil concentrations are a useful guide to genetic disorders associated with neurological deficits and abnormal pyrimidine metabolism

P.M. Davies, L.D. Fairbanks, J.A. Dulby, H.A. Simmonds

The activity of dihydropyrimidine dehydrogenase in human blood cells

A. B. P. Van Kuilenburg, M. J. Blom, H. Van Lenthe, E. Mul, A. H. Van Gennip

Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene

P. Vreken, A. B. P. Van Kuilenburg, R. Meinsma, A. H. van Gennip

Dihydropyrimidinase deficiency: Confirmation of the enzyme defect in dihydropyrimidinuria

A. H. van Gennip, R. A. de Abreu, H. van Lenthe, J. Bakkeren, J. Rotteveel, P. Vreken, A. B. P. van Kuilenburg

Adenylosuccinase deficiency: Clinical and biochemical findings in 5 Czech patients

I. Šebesta, J. Krijt, S. Kmoch, H. Hartmannová, M. Wojda, J. Zeman

1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism

R. A. Wevers, U. Engelke, J. J. Rotteveel, A. Heerschap, J. G. N. de Jong, N. G. G. M. Abeling, A. H. van Gennip, R. A. de Abreu

Familial renal disease or familial juvenile hyperuricaemic nephropathy?

M. B. McBride, H. A. Simmonds, F. Moro

Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency

K. H. Carpenter, M. Potter, J. W. Hammond, B. Wilcken

Hyperhomocysteinemia - A risk factor for abruptio placentae

E. P. Owen, L. Human, A. A. Carolissen, E. H. Harley, H. J. Odendaal

Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223 + 37 de199

V. Kožich, M. Janošík, J. Sokolová, J. Oliveriusová, M. Orendáč, J. P. Kraus, D. Elleder

Complete reversal of moderate/severe brain MRI abnormalities in a patient with classical phenylketonuria

J. H. Walter, F. White, J. E. Wraith, J. P. Jenkins, B. P. M. Wilson

Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia

K. M. Gibson, A. E. Doskey, D. Rabier, C. Jakobs, C. Morlat

Reversible dysregulation of the mitochondrial ATP synthase in skin fibroblasts from children with vitamin B12-dependent methylmalonic acidaemia

A. M. Das

Inhibition of β-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemia

A. H. van Gennip, H. van Lenthe, N. G. G. M. Abeling, E. G. Scholten, A. B. P. van Kuilenburg

Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

E. Christensen, A. Ribes, C. Busquets, M. Pineda, M. Duran, B. T. Poll-The, C. R. Greenberg, H. Leffers, M. Schwartz

Nerve cell lesions caused by 3-hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I

B. Flott-Rahmel, C. Falter, P. Schluff, R. Fingerhut, E. Christensen, C. Jakobs, U. Musshoff, J. D. Fautek, T. Deufel, A. Ludolph, K. Ullrich

Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria

K. M. Gibson, G. F. Hoffmann, L. Sweetman, B. Buckingham

D-(+)-Glyceric aciduria in an Afghan hound

A. C. Sewell, A. Moritz, M. Duran

Valproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitro

M. F. B. Silva, J. P. N. Ruiter, L. IJlst, C. Jakobs, M. Duran, I. Tavares de Almeida, R. J. A. Wanders

A case of benign pyruvate carboxylase deficiency with normal development

J. Hamilton, M. D. Rae, R. W. Logan, P. H. Robinson

Muscle biochemistry in thiamin-responsive anaemia

T. G. Barrett, K. Poulton, M. Baines, C. McCowen

Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage disease

C. E. Mize, L. J. Waber, T. Anderson, M. J. Bennett

Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry

C. Vianey-Saban, N. Guffon, F. Delolne, P. Guibaud, M. Mathieu, P. Divry

Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid

S. E. Olpin, N. J. Manning, R. J. Pollitt, S. Clarke

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of two new mutations

L. IJlst, W. Oostheim, J. P. N. Ruitter, R. J. A. Wanders

Broad specificity of carnitine palmitoyltransferase II towards long-chain acyl-CoA β-oxidation intermediates and its practical approach to the synthesis of various long-chain acylcarnitines

F. V. Ventura, C. G. Costa, L. IJlst, L. Dorland, M. Duran, C. Jakobs, I. Tavares de Almeida, R. J. A. Wanders

Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis

K. E. Baerlocher, B. Steinmann, A. Aguzzi, S. Krähenbühl, C. R. Roe, C. Vianey-Saban

Smith-Lemli-Opitz syndrome: Deficient Δ7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection

R. J. A. Wanders, G. J. Romeijn, F. Wijburg, R. C. M. Hennekam, J. de Jong, R. A. Wevers, G. Dacremont

Genetic heterogeneity in patients with a disorder of peroxisomal β-oxidation: A complementation study based on pristanic acid β-oxidation suggesting different enzyme defects

E. G. van Grunsven, R. J. A. Wanders

Formation of 2,3-pristenic acid and 3-hydroxypristanic acid from pristanic acid in human liver

N. M. Verhoeven, D. S. M. Schor, G. A. Jansen, R. M. Kok, H. J. ten Brink, R. J. A. Wanders, C. Jakobs

Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata

G. A. Jansen, S. J. Mihalik, P. A. Watkins, H. W. Moser, C. Jakobs, H. S. A. Heijmans, R. J. A. Wanders

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

J. Jaeken, J. Artigas, R. Barone, A. Fiumara, T. J. de Koning, B. T. Poll-The, J. F. de Rijk-van Andel, G. F. Hoffmann, B. Assmann, E. Mayatepek, M. Pineda, M. A. Vilaseca, J. M. Saudubray, B. Schlüter, R. Wevers, E. Van Schaftingen

GC-MS determination of guanidinoacetate in urine and plasma

D. H. Hunneman, F. Hanefeld

Molecular analysis in 23 Hunter disease families

W. Lissens, S. Seneca, I. Liebaers

Polyunsaturated fatty acids reverse the lysosomal storage and accumulation of subunit 9 of mitochondrial F1F0-ATP synthase in cultured lymphoblasts from patients with Batten disease

M. J. Bennett, R. L. Boriack, R.-M. Boustany