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K. E. Niezen-Koning

Veröffentlichungen von K. E. Niezen-Koning zu Niezen-Koning, K. E.. ->
weitere Veröffentlichungen von K. E. Niezen-Koning:
Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c (1998)
Determination of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts using mass spectrometry (1991)
Argininosuccinic Aciduria: Clinical and Biochemical Findings in Three Children with the Late Onset Form, with Special Emphasis on Cerebrospinal Fluid Findings of Amino Acids and Pyrimidines (1993)
A new, simple assay for long-chain acyl-CoA dehydrogenase in cultured skin fibroblasts using stable isotopes and GC-MS (1992)
Measurement of short-chain acyl-CoA dehydrogenase (SCAD) in cultured skin fibroblasts with hexanoyl-CoA as a competitive inhibitor to eliminate the contribution of medium-chain acyl-CoA dehydrogenase (1994)
The frequency of lysosomal storage diseases in The Netherlands (1999)
A patient with lethal cardiomyopathy and a carnitine — acylcarnitine translocase deficiency (1995)
Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature (1997)
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency (1999)
Veröffentlichungen zu Niezen-Koning, K. E..
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1
Visser, G., Herwig, J., ... Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 21 (3. 1998), p. 227-231
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1998
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2
Niezen-Koning, K.E., Chapman, T.E., ... Determination of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts using mass spectrometry
in: Clinica Chimica Acta, in: Clinica Chimica Acta . - Amsterdam : Elsevier, ISSN 0009-8981, ZDB-ID 1499920-1 Vol. 199, No. 2 (1991), p. 173-184
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1991
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3
Gerrits, G.P. J. M.. Argininosuccinic Aciduria: Clinical and Biochemical Findings in Three Children with the Late Onset Form, with Special Emphasis on Cerebrospinal Fluid Findings of Amino Acids and...
In: Neuropediatrics. - Stuttgart [u.a.] : Thieme Vol. 24, No. 01 (2. 1993), p. 15-18
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1993
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4
Niezen-Koning, K.E., Wanders, R.J.A., ... A new, simple assay for long-chain acyl-CoA dehydrogenase in cultured skin fibroblasts using stable isotopes and GC-MS
in: Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease, in: Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease . - Amsterdam : Elsevier, ISSN 0925-4439, ZDB-ID 2209528-7 Vol. 1180, No. 1 (1992), p. 28-32
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1992
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5
Niezen-Koning, K.E., Wanders, R.J.A., ... Measurement of short-chain acyl-CoA dehydrogenase (SCAD) in cultured skin fibroblasts with hexanoyl-CoA as a competitive inhibitor to eliminate the contribution of medium-chain...
in: Clinica Chimica Acta, in: Clinica Chimica Acta . - Amsterdam : Elsevier, ISSN 0009-8981, ZDB-ID 1499920-1 Vol. 229, No. 1-2 (1994), p. 99-106
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1994
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6
Poorthuis, B.J.H.M., Wevers, R.A., ... The frequency of lysosomal storage diseases in The Netherlands
in: Human genetics , ISSN 1432-1203, Vol. 105 (1/2. 1999), p. 151-156
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1999
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7
Niezen-Koning, K. E., Spronsen, F. J., ... A patient with lethal cardiomyopathy and a carnitine — acylcarnitine translocase deficiency
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 18 (2. 1995), p. 230-232
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1995
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8
Niezen-Koning, K. E., Wanders, R. J. A., ... Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature
in: European journal of pediatrics , ISSN 1432-1076, Vol. 156 (11. 1997), p. 870-873
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1997
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9
Van Kuilenburg, A. B. P., Vreken, P., ... Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
in: Human genetics , ISSN 1432-1203, Vol. 104 (1. 1999), p. 1-9
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1999
Abstract Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype. In order to understand the genetic and phenotypic basis for DPD deficiency,... mehr
Copyright: Copyright 1999 Springer-Verlag Berlin Heidelberg mehr
beteiligte Personen: Van Kuilenburg, A. B. P. , Vreken, P. , Abeling, N. G. G. M. , Bakker, H. D. , Meinsma, R. , Van Lenthe, H. , De Abreu, R. A. , Smeitink, J. A. M. , Kayserili, H. , Apak, M. Y. , Christensen, E. , Holopainen, I. , Pulkki, K. , Riva, D. , Botteon, G. , Holme, E. , Tulinius, M. , Kleijer, W. J. , Beemer, F. A. , Duran, M. , Niezen-Koning, K. E. , Smit, G. P. A. , Jakobs, C. , Smit, L. M. E. , Moog, U. , Spaapen, L. J. M. , Van Gennip, A. H.
Erschienen: 1999.
Serie: Springer Online Journal Archives 1860-2000 [Dig. Serial]
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URL: http://dx.doi.org/10.1007/PL00008711