Issue 3/1999
Content (31 Articles)
Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria
P. J. Waters, M. A. Parniak, B. R. Akerman, A. O. Jones, C. R. Scriver
Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency
K. Hyland, T. G. Nygaard, J. M. Trugman, K. J. Swoboda, L. A. Arnold, S. P. Sparagana
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading
N. Blau, B. Thöny, A. Renneberg, J. M. Penzien, K. Hyland, G. F. Hoffmann
Cerebrospinal fluid nitrite plus nitrate correlates with tetrahydrobiopterin concentration
S. J. R. Heales, L. Canevari, M. P. Brand, J. B. Clark, J. M. Land, K. Hyland
Pyroglutamic aciduria and nephropathic cystinosis
C. Rizzo, A. Ribes, A. Pastore, C. Dionisi-Vici, M. Greco, G. Rizzoni, G. Federici
Increased excretion of coproporphyrin I in a patient with hereditary tyrosinaemia type I: Relevant changes with NTBC treatment
C. Depetris-Boldini, R. Galetto, M. P. Videla, R. de Kremer Dodelson
Cystinylglycinuria: A new neurometabolic disorder?
H. Bellet, F. Rejou, C. Vallat, H. Mion, A. Dimeglio
Reduced glutathione, γ-glutamylcysteine, cysteine and γ-glutamylglutamine in γ-glutamyltransferase deficiency
J. W. Hammond, M. Potter, K. G. Sim, B. Wilcken
Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency
N. G. G. M. Abeling, A. H. van Gennip, H. Blom, R. A. Wevers, P. Vreken, H. L. G. van Tinteren, H. D. Bakker
Decreased circulating plasma lipids in patients with homocystinuria
S. J. Moat, J. R. Bonham, J. C. Allen, H. J. Powers, I. F. W. McDowell
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism
R. Cerone, M. C. Schiaffino, U. Caruso, S. Lupino, R. Gatti
Biochemistry of glutaric aciduria type I: Activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase
M. Liesert, J. Zschocke, G. F. Hoffmann, N. Mühlhäuser, W. Buckel
3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro
S. Kölker, B. Ahlemeyer, J. Krieglstein, G. F. Hoffmann
Prenatal diagnosis of Canavan disease — Problems and dilemmas
G. T. N. Besley, O. N. Elpeleg, A. Shaag, N. J. Manning, C. Jakobs, J. H. Walter
Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency
C. Costa, J. M. Costa, J. M. Nuoffer, A. Slama, A. Boutron, J. M. Saudubray, A. Legrand, M. Brivet
Carnitine-acylcarnitine translocase deficiency is a treatable disease
A. I. Al Aqeel, M. S. Rashed, R. J. A. Wanders
Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
C. O. Harding, M. B. Gillingham, S. C. van Calcar, J. A. Wolff, J. N. Verhoeve, M. D. Mills
DNA-based prenatal diagnosis for very-long- chain acyl-CoA dehydrogenase deficiency
B. S. Andresen, S. Olpin, E. A. Kvittingen, P. Augoustides-Savvopoulou, D. Lindhout, D. J. J. Halley, C. Vianey-Saban, R. J. A. Wanders, L. IJlst, L. D. Schroeder, L. Bolund, N. Gregersen
Determination of total fatty acids in plasma: cis-5-Tetradecenoic acid (C14:1ω-9) in the diagnosis of long-chain fatty acid oxidation defects
P. Divry, C. Vianey-Saban, M. Mathieu
Problems in the detection of fatty acid oxidation defects: Experience of a quality assurance programme for qualitative urinary organic acid analysis
M. Downing, J. C. Allen, J. R. Bonham, R. G. Edwards, N. J. Manning, S. E. Olpin, R. J. Pollitt
Adsorption of small hydroxy acids on glass: A pitfall in quantitative urinary organic acid analysis by GC-MS
A. A. J. van Landeghem, Y. T. J. Somers-Pijnenburg, W. J. H. M. Somers, C. Stokwielder, W. de Bruyn, G. B. van den Berg
Diagnosis of inborn errors of metabolism using 1H NMR spectroscopic analysis of urine
F. J. Bamforth, V. Dorian, H. Vallance, D. S. Wishart
Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects
P. Vreken, A. E. M. van Lint, A. H. Bootsma, H. Overmars, R. J. A. Wanders, A. H. van Gennip
Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: Application for selective screening of peroxisomal disorders
A. H. Bootsma, H. Overmars, A. van Rooij, A. E. M. van Lint, R. J. A. Wanders, A. H. van Gennip, P. Vreken
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype
J. Gärtner, N. Preuss, U. Brosius, M. Biermanns
Disorders of peroxisome biogenesis: Complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency)
R. J. A. Wanders, P. A. W. Mooijer, C. Dekker, Y. Suzuki, N. Shimozawa
Molecular basis of Sjögren-Larsson syndrome: Frequency of the 1297–1298 del GA and 943C→T mutation in 29 patients
L. IJlst, W. Oostheim, M. van Werkhoven, M. A. A. P. Willemsen, R. J. A. Wanders
Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria
I. Kremensky, S. Jankova, E. Bochukova, M. Uzunova, I. Litvinenko, A. Jordanova
Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase
Y. S. Shin, J. Zschocke, A. M. Das, T. Podskarbi
Glycogen storage disease type IV presenting as hydrops fetalis
A. Alegria, E. Martins, M. Dias, A. Cunha, M. L. Cardoso, I. Maire