Works matching IS 01418955 AND DT 1997 AND VI 20 AND IP 3

Results: 36

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.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 457, doi. 10.1023/A:1005387608456

By:

Bennett, M.;
Boriack, R.;
Boustany, R.-M.

Publication type:

Article

Molecular analysis in 23 Hunter disease families.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 453, doi. 10.1023/A:1005335624386

By:

Lissens, W.;
Seneca, S.;
Liebaers, I.

Publication type:

Article

GC-MS determination of guanidinoacetate in urine and plasma.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 450, doi. 10.1023/A:1005383507547

By:

Hunneman, D.;
Hanefeld, F.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 447, doi. 10.1023/A:1005331523477

By:

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

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 441, doi. 10.1023/A:1005375222568

By:

Verhoeven, N.;
Schor, D.;
Jansen, G.;
Kok, R.;
ten Brink, H.;
Wanders, R.;
Jakobs, C.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 437, doi. 10.1023/A:1005323221660

By:

van Grunsven, E.;
Wanders, R.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 432, doi. 10.1023/A:1005371104822

By:

Wanders, R.;
Romeijn, G.;
Wijburg, F.;
Hennekam, R.;
de Jong, J.;
Wevers, R.;
Dacremont, G.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 427, doi. 10.1023/A:1005319120751

By:

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

Publication type:

Article

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.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 423, doi. 10.1023/A:1005315003913

By:

Ventura, F.;
Costa, C.;
IJlst, L.;
Dorland, L.;
Duran, M.;
Jakobs, C.;
Tavares de Almeida, I.;
Wanders, R.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 420, doi. 10.1023/A:1005310903004

By:

IJlst, L.;
Oostheim, W.;
Ruitter, J.;
Wanders, R.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 415, doi. 10.1023/A:1005358802096

By:

Olpin, S.;
Manning, N.;
Pollitt, R.;
Clarke, S.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 411, doi. 10.1023/A:1005306818025

By:

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

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 407, doi. 10.1023/A:1005354701187

By:

Mize, C.;
Waber, L.;
Anderson, T.;
Bennett, M.

Publication type:

Article

Muscle biochemistry in thiamin-responsive anaemia.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 404, doi. 10.1023/A:1005302717117

By:

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

Publication type:

Article

A case of benign pyruvate carboxylase deficiency with normal development.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 401, doi. 10.1023/A:1005350600278

By:

Hamilton, J.;
Rae, M.;
Logan, R.;
Robinson, P.

Publication type:

Article

Valproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitro.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 397, doi. 10.1023/A:1005398516208

By:

Silva, M.;
Ruiter, J.;
IJlst, L.;
Jakobs, C.;
Duran, M.;
de Almeida, I.;
Wanders, R.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 395, doi. 10.1023/A:1005346532138

By:

Sewell, A.;
Moritz, A.;
Duran, M.

Publication type:

Article

Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 391, doi. 10.1023/A:1005394315300

By:

Gibson, K.;
Hoffmann, G.;
Sweetman, L.;
Buckingham, B.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 387, doi. 10.1023/A:1005342331229

By:

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

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 383, doi. 10.1023/A:1005390214391

By:

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

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 379, doi. 10.1023/A:1005338230321

By:

van Gennip, A.;
van Lenthe, H.;
Abeling, N.;
Scholten, E.;
van Kuilenburg, A.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 375, doi. 10.1023/A:1005386113482

By:

Das, A.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 370, doi. 10.1023/A:1005334129412

By:

Gibson, K.;
Doskey, A.;
Rabier, D.;
Jakobs, C.;
Morlat, C.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 367, doi. 10.1023/A:1005330012574

By:

Walter, J.;
White, F.;
Wraith, J.;
Jenkins, J.;
Wilson, B.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 363, doi. 10.1023/A:1005325911665

By:

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

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 354, doi. 10.1023/A:1005369726686

By:

Carpenter, K.;
Potter, M.;
Hammond, J.;
Wilcken, B.

Publication type:

Article

Familial renal disease or familial juvenile hyperuricaemic nephropathy?

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 351, doi. 10.1023/A:1005365625778

By:

McBride, M.;
Simmonds, H.;
Moro, F.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 345, doi. 10.1023/A:1005313524869

By:

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

Publication type:

Article

Adenylosuccinase deficiency: Clinical and biochemical findings in 5 Czech patients.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 343, doi. 10.1023/A:1005361408031

By:

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

Publication type:

Article

Dihydropyrimidinase deficiency: Confirmation of the enzyme defect in dihydropyrimidinuria.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 339, doi. 10.1023/A:1005309423960

By:

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

Publication type:

Article

Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 335, doi. 10.1023/A:1005357307122

By:

Vreken, P.;
Van Kuilenburg, A.;
Meinsma, R.;
van Gennip, A.

Publication type:

Article

The activity of dihydropyrimidine dehydrogenase in human blood cells.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 331, doi. 10.1023/A:1005305323052

By:

Van Kuilenburg, A.;
Blom, M.;
Van Lenthe, H.;
Mul, E.;
Van Gennip, A.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 328, doi. 10.1023/A:1005332606213

By:

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

Publication type:

Article

Preface.

Published in:: Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 327, doi. 10.1023/A:1017105622143
Publication type:: Article

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

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 444, doi. 10.1023/A:1005379406639

By:

Jansen, G.;
Mihalik, S.;
Watkins, P.;
Moser, H.;
Jakobs, C.;
Heijmans, H.;
Wanders, R.

Publication type:

Article

Hyperhomocysteinemia - A risk factor for abruptio placentae.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 359, doi. 10.1023/A:1005373810756

By:

Owen, E.;
Human, L.;
Carolissen, A.;
Harley, E.;
Odendaal, H.

Publication type:

Article