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High-resolution 1H-NMR spectroscopy of blood plasma for metabolic studiesWEVERS, R. A; ENGELKE, U; HEERSCHAP, A et al.Clinical chemistry (Baltimore, Md.). 1994, Vol 40, Num 7, pp 1245-1250, issn 0009-9147, 1Article

Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolismMOOLENAAR, S. H; ENGELKE, U. F. H; WEVERS, R. A et al.Annals of clinical biochemistry. 2003, Vol 40, pp 16-24, issn 0004-5632, 9 p., 1Article

Cerebrospinal fluid investigations for neurometabolic disordersHOFFMANN, G. F; SURTEES, R. A. H; WEVERS, R. A et al.Neuropediatrics. 1998, Vol 29, Num 2, pp 59-71, issn 0174-304XArticle

A bioluminescent assay for enolase (EC 4.2.1.11) activity in human serum and cerebrospinal fluidWEVERS, R. A; JACOBS, A. A. C; HOMMES, O. R et al.Clinica chimica acta. 1983, Vol 135, Num 2, pp 159-168, issn 0009-8981Article

Mitochondrial creatine kinase : a key enzyme of aerobic energy metabolismWYSS, M; SMEITINK, J; WEVERS, R. A et al.Biochimica et biophysica acta. Bioenergetics. 1992, Vol 1102, Num 2, pp 119-166, issn 0005-2728Article

Neurotransmitter metabolites in CSF: An external quality control schemeBRÄUTIGAM, C; WEYKAMP, C; HOFFMANN, G. F et al.Journal of inherited metabolic disease. 2002, Vol 25, Num 4, pp 287-298, issn 0141-8955Article

Anion-exchange chromatography versus isoelectric focusing of transferrin in diagnosing the carbohydrate-deficient glycoprotein syndromeVREKEN, P; RUSCH, H; HUIJBEN, K et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 4, pp 447-448, issn 0141-8955Article

An immunobioluminescence assay for gamma-gamma enolase activity in human serum and cerebrospinal fluidWEVERS, R. A; THEUNISSE, A. W. G; RIJKSEN, G et al.Clinica chimica acta. 1988, Vol 178, Num 2, pp 141-150, issn 0009-8981Article

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?ORNGREEN, M. C; SCHELHAAS, H. J; JEPPESEN, T. D et al.Neurology. 2008, Vol 70, Num 20, pp 1876-1882, issn 0028-3878, 7 p.Article

Congenital disorder of glycosylation type la presenting with hydrops fetalisVAN DE KAMP, J. M; LEFEBER, D. J; RUIJTER, G. J. G et al.Journal of medical genetics. 2007, Vol 44, Num 4, pp 277-280, issn 0022-2593, 4 p.Article

Methylsulfonylmethane (MSM) ingestion causes a significant resonance in proton magnetic resonance spectra of brain and cerebrospinal fluidWILLEMSEN, M. A. A. P; ENGELKE, U. F. H; VAN DER GRAAF, M et al.Neuropediatrics. 2006, Vol 37, Num 5, pp 312-314, issn 0174-304X, 3 p.Article

Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapiesFIUMARA, A; BRÄUTIGAM, C; HYLAND, K et al.Neuropediatrics. 2002, Vol 33, Num 4, pp 203-208, issn 0174-304XArticle

Muscle function during repetitive moderate-intensity muscle contractions in myoadenylate deaminase-deficient Dutch subjectsDE RUITER, C. J; MAY, A. M; VAN ENGELEN, B. G. M et al.Clinical science (1979). 2002, Vol 102, Num 5, pp 531-539, issn 0143-5221Article

Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiencyABELING, N. G. G. M; BRÄUTIGAM, C; HOFFMANN, G. F et al.Journal of inherited metabolic disease. 2000, Vol 23, Num 4, pp 325-328, issn 0141-8955Article

Tyrosine hydroxylase deficiency with severe clinical course : Clinical and biochemical investigations and optimization of therapyDIONISI-VICI, C; HOFFMANN, G. F; LEUZZI, V et al.The Journal of pediatrics. 2000, Vol 136, Num 4, pp 560-562, issn 0022-3476Article

Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentationDE LONLAY, P; NASSOGNE, M. C; WEVERS, R. A et al.Journal of inherited metabolic disease. 2000, Vol 23, Num 8, pp 819-825, issn 0141-8955Article

Rapid diagnosis and methionine administration : Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiencyABELING, N. G. G. M; VAN GENNIP, A. H; BLOM, H et al.Journal of inherited metabolic disease. 1999, Vol 22, Num 3, pp 240-242, issn 0141-8955Article

Cerebrospinal fluid methylmalonic acid concentrations in neurological patients with low and normal serum cobalamin concentrationsVAN ASSELT, D. Z. B; KARLIETIS, M. H. J; POELS, P. J. E et al.Acta neurologica scandinavica. 1998, Vol 97, Num 6, pp 413-416, issn 0001-6314Article

Role of cobalamin intake and atrophic gastritis in mild cobalamin deficiency in older Dutch subjectsVAN ASSELT, D. Z. B; DE GROOT, L. C. P. G. M; VAN STAVEREN, W. A et al.The American journal of clinical nutrition. 1998, Vol 68, Num 2, pp 328-334, issn 0002-9165Article

Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndromeJIRA, P. E; DE JONG, J. G. N; JANSSEN-ZIJLSTRA, F. S. M et al.Clinical chemistry (Baltimore, Md.). 1997, Vol 43, Num 1, pp 129-133, issn 0009-9147Conference Paper

Congenital nephrotic syndrome : A novel phenotype of type I carbohydrate-deficient glycoprotein syndromeVAN DER KNAAP, M. S; WEVERS, R. A; MONNENS, L et al.Journal of inherited metabolic disease. 1996, Vol 19, Num 6, pp 787-791, issn 0141-8955Article

Metachromatic leukodystrophy : a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variantLUYTEN, J. A. F. M; WENINK, P. W; STEENBERGEN-SPANJERS, G. C. H et al.Human genetics. 1995, Vol 96, Num 3, pp 357-360, issn 0340-6717Article

Six novel mutations in the α-galactosidase A gene in families with Fabry diseasePLOOS VAN AMSTEL, J. K; PLOOS VAN AMSTEL, J. K; PLOOS VAN AMSTEL, J. K; PLOOS VAN AMSTEL, J. K; JANSEN, R. P. M et al.Human molecular genetics (Print). 1994, Vol 3, Num 3, pp 503-505, issn 0964-6906Article

Prenatal analyses in a pregnancy at risk for β-mannosidosisKLEIJER, W. J; GEILEN, G. C; VAN DIGGELEN, O. P et al.Prenatal diagnosis. 1992, Vol 12, Num 10, pp 841-843, issn 0197-3851Article

Ischaemic forearm testing in a patient with Ca2-ATPae deficiencyWEVERS, R. A; POELS, P. J. E; JOOSTEN, E. M. G et al.Journal of inherited metabolic disease. 1992, Vol 15, Num 3, pp 423-425, issn 0141-8955Conference Paper

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