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Results: 1-6 |
Results: 6
Succinyl-CoA : 3-ketoacid CoA transferase (SCOT): Cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations
Authors: Fukao, T Mitchell, GA Song, XQ Nakamura, H Kassovska-Bratinova, S Orii, KE Wraith, JE Besley, G Wanders, RJA Niezen-Koning, KE Berry, GT Palmieri, M Kondo, N
Citation: T. Fukao et al., Succinyl-CoA : 3-ketoacid CoA transferase (SCOT): Cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations, GENOMICS, 68(2), 2000, pp. 144-151
End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-indication for liver transplantation
Authors: Rake, JP van Spronsen, FJ Visser, G Ruitenbeek, W Schweizer, JJ Bijleveld, CMA Peeters, PMJG de Jong, KP Slooff, MJH Reijngoud, DJ Niezen-Koning, KE Smit, GPA
Citation: Jp. Rake et al., End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-indication for liver transplantation, EUR J PED, 159(7), 2000, pp. 523-526
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart
Authors: Rake, JP ten Berge, AM Visser, G Verlind, E Niezen-Koning, KE Buys, CHCM Smit, GPA Scheffer, H
Citation: Jp. Rake et al., Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart, EUR J PED, 159(5), 2000, pp. 322-330
3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father
Authors: Visser, G Suormala, T Smit, GPA Reijngoud, DJ Bink-Boelkens, MTE Niezen-Koning, KE Baumgartner, ER
Citation: G. Visser et al., 3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father, EUR J PED, 159(12), 2000, pp. 901-904
The frequency of lysosomal storage diseases in The Netherlands
Authors: Poorthuis, BJHM Wevers, RA Kleijer, WJ Groener, JEM de Jong, JGN van Weely, S Niezen-Koning, KE van Diggelen, OP
Citation: Bjhm. Poorthuis et al., The frequency of lysosomal storage diseases in The Netherlands, HUM GENET, 105(1-2), 1999, pp. 151-156
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
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