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Results: 1-9 |
Results: 9
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
Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: Results of the European Study on Glycogen Storage Disease Type I
Authors: Visser, G Rake, JP Fernandes, J Labrune, P Leonard, JV Moses, S Ullrich, K Smit, GPA
Citation: G. Visser et al., Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: Results of the European Study on Glycogen Storage Disease Type I, J PEDIAT, 137(2), 2000, pp. 187-191
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis
Authors: Houten, SM Romeijn, GJ Koster, J Gray, RGF Darbyshire, P Smit, GPA de Klerk, JBC Duran, M Gibson, KM Wanders, RJA Waterham, HR
Citation: Sm. Houten et al., Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis, HUM MOL GEN, 8(8), 1999, pp. 1523-1528
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
Liver transplantation for glycogen storage disease types I, III, and IV
Authors: Matern, D Starzl, TE Arnaout, W Barnard, J Bynon, JS Dhawan, A Emond, J Haagsma, EB Hug, G Lachaux, A Smit, GPA Chen, YT
Citation: D. Matern et al., Liver transplantation for glycogen storage disease types I, III, and IV, EUR J PED, 158, 1999, pp. S43-S48
A convenient diagnostic function test of peripheral blood neutrophils in glycogen storage disease type Ib
Authors: Verhoeven, AJ Visser, G Van Zwieten, R Gruszczynska, B Poll-The, DWEET Smit, GPA
Citation: Aj. Verhoeven et al., A convenient diagnostic function test of peripheral blood neutrophils in glycogen storage disease type Ib, PEDIAT RES, 45(6), 1999, pp. 881-885
The success of dietary protein restriction in alkaptonuria patients is age-dependent
Authors: de Haas, V Weber, ECC de Klerk, JBC Bakker, HD Smit, GPA Huijbers, WAR Duran, M Poll-The, BT
Citation: V. De Haas et al., The success of dietary protein restriction in alkaptonuria patients is age-dependent, J INH MET D, 21(8), 1998, pp. 791-798
Risultati: 1-9 |