Journal of Inherited Metabolic Disease

Preface
pp. 327-327(1)

Urinary uracil concentrations are a useful guide to genetic disorders associated with neurological deficits and abnormal pyrimidine metabolism
pp. 328-330(3)
Authors: Davies P.M.; Fairbanks L.D.; Dulby J.A.; Simmonds H.A.

The activity of dihydropyrimidine dehydrogenase in human blood cells
pp. 331-334(4)
Authors: Van Kuilenburg A.B.P.; Blom M.J.; Van Lenthe H.; Mul E.; Van Gennip A.H.

Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene
pp. 335-338(4)
Authors: Vreken P.; Van Kuilenburg A.B.P.; Meinsma R.; van Gennip A.H.

Dihydropyrimidinase deficiency: Confirmation of the enzyme defect in dihydropyrimidinuria
pp. 339-342(4)
Authors: van Gennip A.H.; de Abreu R.A.; van Lenthe H.; Bakkeren J.; Rotteveel J.; Vreken P.; van Kuilenburg A.B.P.

Adenylosuccinase deficiency: Clinical and biochemical findings in 5 Czech patients
pp. 343-344(2)
Authors: ebesta I.; Krijt J.; Kmoch S.; Hartmannová H.; Wojda M.; Zeman J.

1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism
pp. 345-350(6)
Authors: Wevers R.A.; Engelke U.; Rotteveel J.J.; Heerschap A.; de Jong J.G.N.; Abeling N.G.G.M.; van Gennip A.H.; de Abreu R.A.

Familial renal disease or familial juvenile hyperuricaemic nephropathy?
pp. 351-353(3)
Authors: McBride M.B.; Simmonds H.A.; Moro F.

Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency
pp. 354-358(5)
Authors: Carpenter K.H.; Potter M.; Hammond J.W.; Wilcken B.

Hyperhomocysteinemia - A risk factor for abruptio placentae
pp. 359-362(4)
Authors: Owen E.P.; Human L.; Carolissen A.A.; Harley E.H.; Odendaal H.J.

Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223 + 37 de199
pp. 363-366(4)
Authors: Koich V.; Janoík M.; Sokolová J.; Oliveriusová J.; Orendá M.; Kraus J.P.; Elleder D.

Complete reversal of moderate/severe brain MRI abnormalities in a patient with classical phenylketonuria
pp. 367-369(3)
Authors: Walter J.H.; White F.; Wraith J.E.; Jenkins J.P.; Wilson B.P.M.

Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia
pp. 370-374(5)
Authors: Gibson K.M.; Doskey A.E.; Rabier D.; Jakobs C.; Morlat C.

Reversible dysregulation of the mitochondrial ATP synthase in skin fibroblasts from children with vitamin B12-dependent methylmalonic acidaemia
pp. 375-378(4)
Author: Das A.M.

Inhibition of -ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemia
pp. 379-382(4)
Authors: van Gennip A.H.; van Lenthe H.; Abeling N.G.G.M.; Scholten E.G.; van Kuilenburg A.B.P.

Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion
pp. 383-386(4)
Authors: Christensen E.; Ribes A.; Busquets C.; Pineda M.; Duran M.; Poll-The B.T.; Greenberg C.R.; Leffers H.; Schwartz M.

Nerve cell lesions caused by 3-hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I
pp. 387-390(4)
Authors: Flott-Rahmel B.; Falter C.; Schluff P.; Fingerhut R.; Christensen E.; Jakobs C.; Musshoff U.; Fautek J.D.; Deufel T.; Ludolph A.; Ullrich K.

Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria
pp. 391-394(4)
Authors: Gibson K.M.; Hoffmann G.F.; Sweetman L.; Buckingham B.

D-(+)-Glyceric aciduria in an Afghan hound
pp. 395-396(2)
Authors: Sewell A.C.; Moritz A.; Duran M.

Valproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitro
pp. 397-400(4)
Authors: Silva M.F.B.; Ruiter J.P.N.; IJlst L.; Jakobs C.; Duran M.; de Almeida I.T.; Wanders R.J.A.

A case of benign pyruvate carboxylase deficiency with normal development
pp. 401-403(3)
Authors: Hamilton J.; Rae M.D.; Logan R.W.; Robinson P.H.

Muscle biochemistry in thiamin-responsive anaemia
pp. 404-406(3)
Authors: Barrett T.G.; Poulton K.; Baines M.; McCowen C.

Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage disease
pp. 407-410(4)
Authors: Mize C.E.; Waber L.J.; Anderson T.; Bennett M.J.

Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry
pp. 411-414(4)
Authors: Vianey-Saban C.; Guffon N.; Delolne F.; Guibaud P.; Mathieu M.; Divry P.

Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid
pp. 415-419(5)
Authors: Olpin S.E.; Manning N.J.; Pollitt R.J.; Clarke S.

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of two new mutations
pp. 420-422(3)
Authors: IJlst L.; Oostheim W.; Ruitter J.P.N.; Wanders R.J.A.

Broad specificity of carnitine palmitoyltransferase II towards long-chain acyl-CoA -oxidation intermediates and its practical approach to the synthesis of various long-chain acylcarnitines
pp. 423-426(4)
Authors: Ventura F.V.; Costa C.G.; IJlst L.; Dorland L.; Duran M.; Jakobs C.; Tavares de Almeida I.; Wanders R.J.A.

Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis
pp. 427-431(5)
Authors: Baerlocher K.E.; Steinmann B.; Aguzzi A.; Krähenbühl S.; Roe C.R.; Vianey-Saban C.

Smith-Lemli-Opitz syndrome: Deficient 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection
pp. 432-436(5)
Authors: Wanders R.J.A.; Romeijn G.J.; Wijburg F.; Hennekam R.C.M.; de Jong J.; Wevers R.A.; Dacremont G.

Genetic heterogeneity in patients with a disorder of peroxisomal -oxidation: A complementation study based on pristanic acid -oxidation suggesting different enzyme defects
pp. 437-440(4)
Authors: van Grunsven E.G.; Wanders R.J.A.

Formation of 2,3-pristenic acid and 3-hydroxypristanic acid from pristanic acid in human liver
pp. 441-443(3)
Authors: Verhoeven N.M.; Schor D.S.M.; Jansen G.A.; Kok R.M.; ten Brink H.J.; Wanders R.J.A.; Jakobs C.

Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata
pp. 444-446(3)
Authors: Jansen G.A.; Mihalik S.J.; Watkins P.A.; Moser H.W.; Jakobs C.; Heijmans H.S.A.; Wanders R.J.A.

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins
pp. 447-449(3)
Authors: Jaeken J.; Artigas J.; Barone R.; Fiumara A.; de Koning T.J.; Poll-The B.T.; de Rijk-van Andel J.F.; Hoffmann G.F.; Assmann B.; Mayatepek E.; Pineda M.; Vilaseca M.A.; Saudubray J.M.; Schlüter B.; Wevers R.; Van Schaftingen E.

GC-MS determination of guanidinoacetate in urine and plasma
pp. 450-452(3)
Authors: Hunneman D.H.; Hanefeld F.

Molecular analysis in 23 Hunter disease families
pp. 453-456(4)
Authors: Lissens W.; Seneca S.; Liebaers I.

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
pp. 457-460(4)
Authors: Bennett M.J.; Boriack R.L.; Boustany R.-M.