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Results: 1-8 |
Results: 8
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?
Authors: Bakker, HD de Sonnaville, MLCS Vreken, P Abeling, NGGM Groener, JEM Keulemans, JLM van Diggelen, OP
Citation: Hd. Bakker et al., Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?, EUR J HUM G, 9(2), 2001, pp. 91-96
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation
Authors: De Lonlay, P Nassogne, MC van Gennip, AH van Cruchten, AC de Villemeur, TB Cretz, M Stoll, C Launay, JM Steenberger-Spante, GCV van den Heuvel, LPW Wevers, RA Saudubray, JM Abeling, NGGM
Citation: P. De Lonlay et al., Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation, J INH MET D, 23(8), 2000, pp. 819-825
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency
Authors: Abeling, NGGM Brautigam, C Hoffmann, GF Barth, PG Wevers, RA Jaeken, J Fiumara, A Knust, A van Gennip, AH
Citation: Nggm. Abeling et al., Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency, J INH MET D, 23(4), 2000, pp. 325-328
Eniluracil treatment completely inactivates dihydropyrimidine dehydrogenase in colorectal tumors
Authors: Ahmed, FY Johnston, SJ Cassidy, J O'Kelly, T Binnie, N Murray, GI van Gennip, AH Abeling, NGGM Knight, S McLeod, HL
Citation: Fy. Ahmed et al., Eniluracil treatment completely inactivates dihydropyrimidine dehydrogenase in colorectal tumors, J CL ONCOL, 17(8), 1999, pp. 2439-2445
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
Authors: Van Kuilenburg, ABP Vreken, P Abeling, NGGM Bakker, HD Meinsma, R Van Lenthe, H De Abreu, RA Smeitink, JAM Kayserili, H Apak, MY Christensen, E Holopainen, I Pulkki, K Riva, D Botteon, G Holme, E Tulinius, R Kleijer, WJ Beemer, FA Duran, M Niezen-Koning, KE Smit, GPA Jakobs, C Smit, LME Moog, U Spaapen, LJM Van Gennip, AH
Citation: Abp. Van Kuilenburg et al., Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency, HUM GENET, 104(1), 1999, pp. 1-9
Normal kynurenine metabolism in 2-oxoadipic aciduria
Authors: Sewell, AC Herwig, J Bohles, H Abeling, NGGM van Gennip, AH
Citation: Ac. Sewell et al., Normal kynurenine metabolism in 2-oxoadipic aciduria, J INH MET D, 22(8), 1999, pp. 949-950
Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency
Authors: Abeling, NGGM van Gennip, AH Blom, H Wevers, RA Vreken, P van Tinteren, HLG Bakker, HD
Citation: Nggm. Abeling et al., Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency, J INH MET D, 22(3), 1999, pp. 240-242
Clinical and biochemical abnormalities in a patient with dihydropyrimidinedehydrogenase deficiency due to homozygosity for the C29R mutation
Authors: Van Kuilenburg, ABP Vreken, P Riva, D Botteon, G Abeling, NGGM Bakker, HD Van Gennip, AH
Citation: Abp. Van Kuilenburg et al., Clinical and biochemical abnormalities in a patient with dihydropyrimidinedehydrogenase deficiency due to homozygosity for the C29R mutation, J INH MET D, 22(2), 1999, pp. 191-192
Risultati: 1-8 |