de Klerk JB - Search Results

1

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.

Vaz FM, Scholte HR, Ruiter J, Hussaarts-Odijk LM, Pereira RR, Schweitzer S, de Klerk JB, Waterham HR, Wanders RJ. Vaz FM, et al. Among authors: de klerk jb. Hum Genet. 1999 Jul-Aug;105(1-2):157-61. doi: 10.1007/s004399900105. Hum Genet. 1999. PMID: 10480371

2

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

3

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.

4

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N. Andresen BS, et al. Am J Hum Genet. 1999 Feb;64(2):479-94. doi: 10.1086/302261. Am J Hum Genet. 1999. PMID: 9973285 Free PMC article.

5

Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.

van den Ouweland JM, de Klerk JB, van de Corput MP, Dirks RW, Raap AK, Scholte HR, Huijmans JG, Hart LM, Bruining GJ, Maassen JA. van den Ouweland JM, et al. Among authors: de klerk jb. Eur J Hum Genet. 2000 Mar;8(3):195-203. doi: 10.1038/sj.ejhg.5200444. Eur J Hum Genet. 2000. PMID: 10780785

6

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.

7

Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.

van Grunsven EG, van Berkel E, Ijlst L, Vreken P, de Klerk JB, Adamski J, Lemonde H, Clayton PT, Cuebas DA, Wanders RJ. van Grunsven EG, et al. Among authors: de klerk jb. Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2128-33. doi: 10.1073/pnas.95.5.2128. Proc Natl Acad Sci U S A. 1998. PMID: 9482850 Free PMC article.

8

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.

9

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.

10

Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method.

Wanders RJ, Zoeters PH, Schutgens RB, de Klerk JB, Duran M, Wadman SK, van Sprang FJ, Hemmes AM, Voorbrood BS. Wanders RJ, et al. Among authors: de klerk jb. Clin Chim Acta. 1990 Aug 31;189(3):327-34. doi: 10.1016/0009-8981(90)90314-i. Clin Chim Acta. 1990. PMID: 2225463

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