Works matching IS 01418955 AND DT 1999 AND VI 22 AND IP 3

Results: 31

Glycogen storage disease type IV presenting as hydrops fetalis.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 330, doi. 10.1023/A:1005568507267

By:

Alegria, A.;
Martins, E.;
Dias, M.;
Cunha, A.;
Cardoso, M.;
Maire, I.

Publication type:

Article

Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 327, doi. 10.1023/A:1005516523196

By:

Shin, Y.;
Zschocke, J.;
Das, A.;
Podskarbi, T.

Publication type:

Article

Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 322, doi. 10.1023/A:1005512306358

By:

Kremensky, I.;
Jankova, S.;
Bochukova, E.;
Uzunova, M.;
Litvinenko, I.;
Jordanova, A.

Publication type:

Article

Molecular basis of Sjögren-Larsson syndrome: Frequency of the 1297–1298 del GA and 943C→T mutation in 29 patients.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 319, doi. 10.1023/A:1005508205450

By:

IJlst, L.;
Oostheim, W.;
van Werkhoven, M.;
Willemsen, M.;
Wanders, R.

Publication type:

Article

Disorders of peroxisome biogenesis: Complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency).

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 314, doi. 10.1023/A:1005504104541

By:

Wanders, R.;
Mooijer, P.;
Dekker, C.;
Suzuki, Y.;
Shimozawa, N.

Publication type:

Article

Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 311, doi. 10.1023/A:1005599903632

By:

Gärtner, J.;
Preuss, N.;
Brosius, U.;
Biermanns, M.

Publication type:

Article

Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: Application for selective screening of peroxisomal disorders.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 307, doi. 10.1023/A:1005543802724

By:

Bootsma, A.;
Overmars, H.;
van Rooij, A.;
van Lint, A.;
Wanders, R.;
van Gennip, A.;
Vreken, P.

Publication type:

Article

Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 302, doi. 10.1023/A:1005587617745

By:

Vreken, P.;
van Lint, A.;
Bootsma, A.;
Overmars, H.;
Wanders, R.;
van Gennip, A.

Publication type:

Article

Diagnosis of inborn errors of metabolism using 1H NMR spectroscopic analysis of urine.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 297, doi. 10.1023/A:1005531432766

By:

Bamforth, F.;
Dorian, V.;
Vallance, H.;
Wishart, D.

Publication type:

Article

Adsorption of small hydroxy acids on glass: A pitfall in quantitative urinary organic acid analysis by GC-MS.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 293, doi. 10.1023/A:1005527315019

By:

van Landeghem, A.;
Somers-Pijnenburg, Y.;
Somers, W.;
Stokwielder, C.;
de Bruyn, W.;
van den Berg, G.

Publication type:

Article

Problems in the detection of fatty acid oxidation defects: Experience of a quality assurance programme for qualitative urinary organic acid analysis.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 289, doi. 10.1023/A:1005575214110

By:

Downing, M.;
Allen, J.;
Bonham, J.;
Edwards, R.;
Manning, N.;
Olpin, S.;
Pollitt, R.

Publication type:

Article

Determination of total fatty acids in plasma: cis-5-Tetradecenoic acid (C14:1ω-9) in the diagnosis of long-chain fatty acid oxidation defects.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 286, doi. 10.1023/A:1005567030040

By:

Divry, P.;
Vianey-Saban, C.;
Mathieu, M.

Publication type:

Article

DNA-based prenatal diagnosis for very-long- chain acyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 281, doi. 10.1023/A:1005558828223

By:

Andresen, B.;
Olpin, S.;
Kvittingen, E.;
Augoustides-Savvopoulou, P.;
Lindhout, D.;
Halley, D.;
Vianey-Saban, C.;
Wanders, R.;
IJlst, L.;
Schroeder, L.;
Bolund, L.;
Gregersen, N.

Publication type:

Article

Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 276, doi. 10.1023/A:1005502626406

By:

Harding, C.;
Gillingham, M.;
van Calcar, S.;
Wolff, J.;
Verhoeve, J.;
Mills, M.

Publication type:

Article

Carnitine-acylcarnitine translocase deficiency is a treatable disease.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 271, doi. 10.1023/A:1005546408659

By:

Al Aqeel, A.;
Rashed, M.;
Wanders, R.

Publication type:

Article

Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 267, doi. 10.1023/A:1005590223680

By:

Costa, C.;
Costa, J.;
Nuoffer, J.;
Slama, A.;
Boutron, A.;
Saudubray, J.;
Legrand, A.;
Brivet, M.

Publication type:

Article

Prenatal diagnosis of Canavan disease — Problems and dilemmas.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 263, doi. 10.1023/A:1005534105933

By:

Besley, G.;
Elpeleg, O.;
Shaag, A.;
Manning, N.;
Jakobs, C.;
Walter, J.

Publication type:

Article

3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 259, doi. 10.1023/A:1005577920954

By:

Kölker, S.;
Ahlemeyer, B.;
Krieglstein, J.;
Hoffmann, G.

Publication type:

Article

Biochemistry of glutaric aciduria type I: Activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 256, doi. 10.1023/A:1005525903207

By:

Liesert, M.;
Zschocke, J.;
Hoffmann, G.;
Mühlhäuser, N.;
Buckel, W.

Publication type:

Article

What is the origin of 3-methylglutaconic acid?

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 251, doi. 10.1023/A:1005573819137

By:

Walsh, R.;
Conway, H.;
Roche, G.;
Mayne, P.

Publication type:

Article

Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 247, doi. 10.1023/A:1005521702298

By:

Cerone, R.;
Schiaffino, M.;
Caruso, U.;
Lupino, S.;
Gatti, R.

Publication type:

Article

Decreased circulating plasma lipids in patients with homocystinuria.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 243, doi. 10.1023/A:1005565518228

By:

Moat, S.;
Bonham, J.;
Allen, J.;
Powers, H.;
McDowell, I.

Publication type:

Article

Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 240, doi. 10.1023/A:1005509400481

By:

Abeling, N.;
van Gennip, A.;
Blom, H.;
Wevers, R.;
Vreken, P.;
van Tinteren, H.;
Bakker, H.

Publication type:

Article

Reduced glutathione, γ-glutamylcysteine, cysteine and γ-glutamylglutamine in γ-glutamyltransferase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 235, doi. 10.1023/A:1005505315502

By:

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

Publication type:

Article

Cystinylglycinuria: A new neurometabolic disorder?

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 231, doi. 10.1023/A:1005549114594

By:

Bellet, H.;
Rejou, F.;
Vallat, C.;
Mion, H.;
Dimeglio, A.

Publication type:

Article

Increased excretion of coproporphyrin I in a patient with hereditary tyrosinaemia type I: Relevant changes with NTBC treatment.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 227, doi. 10.1023/A:1005597029615

By:

Depetris-Boldini, C.;
Galetto, R.;
Videla, M.;
de Kremer Dodelson, R.

Publication type:

Article

Pyroglutamic aciduria and nephropathic cystinosis.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 224, doi. 10.1023/A:1005545012776

By:

Rizzo, C.;
Ribes, A.;
Pastore, A.;
Dionisi-Vici, C.;
Greco, M.;
Rizzoni, G.;
Federici, G.

Publication type:

Article

Cerebrospinal fluid nitrite plus nitrate correlates with tetrahydrobiopterin concentration.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 221, doi. 10.1023/A:1005540828706

By:

Heales, S.;
Canevari, L.;
Brand, M.;
Clark, J.;
Land, J.;
Hyland, K.

Publication type:

Article

Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 216, doi. 10.1023/A:1005584627797

By:

Blau, N.;
Thöny, B.;
Renneberg, A.;
Penzien, J.;
Hyland, K.;
Hoffmann, G.

Publication type:

Article

Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 213, doi. 10.1023/A:1005532610051

By:

Hyland, K.;
Nygaard, T.;
Trugman, J.;
Swoboda, K.;
Arnold, L.;
Sparagana, S.

Publication type:

Article

Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 208, doi. 10.1023/A:1005533825980

By:

Waters, P.;
Parniak, M.;
Akerman, B.;
Jones, A.;
Scriver, C.

Publication type:

Article