de Klerk JB - Search Results

1

L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients.

Wanders RJ, Vilarinho L, Hartung HP, Hoffmann GF, Mooijer PA, Jansen GA, Huijmans JG, de Klerk JB, ten Brink HJ, Jakobs C, Duran M. Wanders RJ, et al. Among authors: de klerk jb. J Inherit Metab Dis. 1997 Sep;20(5):725-6. doi: 10.1023/a:1005355316599. J Inherit Metab Dis. 1997. PMID: 9323578 No abstract available.

2

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients.

Wanders RJ, Ijlst L, Duran M, Jakobs C, de Klerk JB, Przyrembel H, Rocchiccioli F, Aubourg P. Wanders RJ, et al. Among authors: de klerk jb. J Inherit Metab Dis. 1991;14(3):325-8. doi: 10.1007/BF01811694. J Inherit Metab Dis. 1991. PMID: 1770784 No abstract available.

3

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Przyrembel H, Jakobs C, IJlst L, de Klerk JB, Wanders RJ. Przyrembel H, et al. Among authors: de klerk jb. J Inherit Metab Dis. 1991;14(5):674-80. doi: 10.1007/BF01799932. J Inherit Metab Dis. 1991. PMID: 1779613 No abstract available.

4

L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship.

de Klerk JB, Huijmans JG, Stroink H, Robben SG, Jakobs C, Duran M. de Klerk JB, et al. Neuropediatrics. 1997 Dec;28(6):314-7. doi: 10.1055/s-2007-973722. Neuropediatrics. 1997. PMID: 9453028

5

Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver.

Scholte HR, Ross JD, Blom W, Boonman AM, van Diggelen OP, Hall CL, Huijmans JG, Luyt-Houwen IE, Kleijer WJ, de Klerk JB, et al. Scholte HR, et al. Among authors: de klerk jb. J Inherit Metab Dis. 1992;15(3):347-52. doi: 10.1007/BF02435973. J Inherit Metab Dis. 1992. PMID: 1405467 No abstract available.

6

Octanoate and palmitate beta-oxidation in human leukocytes: implications for the rapid diagnosis of fatty acid beta-oxidation disorders.

Wanders RJ, Ijlst L, van Elk E, de Klerk JB, Przyrembel H. Wanders RJ, et al. Among authors: de klerk jb. J Inherit Metab Dis. 1991;14(3):317-20. doi: 10.1007/BF01811692. J Inherit Metab Dis. 1991. PMID: 1770782 No abstract available.

7

Tyrosinaemia type I: orthotopic liver transplantation as the only definitive answer to a metabolic as well as an oncological problem.

van Spronsen FJ, Berger R, Smit GP, de Klerk JB, Duran M, Bijleveld CM, van Faassen H, Slooff MJ, Heymans HS. van Spronsen FJ, et al. Among authors: de klerk jb. J Inherit Metab Dis. 1989;12 Suppl 2:339-42. doi: 10.1007/BF03335416. J Inherit Metab Dis. 1989. PMID: 2556611 Review. No abstract available.

8

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.

Ijlst L, Uskikubo S, Kamijo T, Hashimoto T, Ruiter JP, de Klerk JB, Wanders RJ. Ijlst L, et al. Among authors: de klerk jb. J Inherit Metab Dis. 1995;18(2):241-4. doi: 10.1007/BF00711778. J Inherit Metab Dis. 1995. PMID: 7564258 No abstract available.

9

Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism.

Coker M, de Klerk JB, Poll-The BT, Huijmans JG, Duran M. Coker M, et al. Among authors: de klerk jb. J Inherit Metab Dis. 1996;19(6):743-51. doi: 10.1007/BF01799166. J Inherit Metab Dis. 1996. PMID: 8982947

10

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

Houten SM, Romeijn GJ, Koster J, Gray RG, Darbyshire P, Smit GP, de Klerk JB, Duran M, Gibson KM, Wanders RJ, Waterham HR. Houten SM, et al. Among authors: de klerk jb. Hum Mol Genet. 1999 Aug;8(8):1523-8. doi: 10.1093/hmg/8.8.1523. Hum Mol Genet. 1999. PMID: 10401001

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