de Klerk JB - Search Results

1

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.

van de Kamp JM, Pouwels PJ, Aarsen FK, ten Hoopen LW, Knol DL, de Klerk JB, de Coo IF, Huijmans JG, Jakobs C, van der Knaap MS, Salomons GS, Mancini GM. van de Kamp JM, et al. Among authors: de klerk jb. J Inherit Metab Dis. 2012 Jan;35(1):141-9. doi: 10.1007/s10545-011-9345-1. Epub 2011 May 10. J Inherit Metab Dis. 2012. PMID: 21556832 Free PMC article.

2

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

3

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.

4

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.

5

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.

6

Amniotic fluid odd-chain fatty acids are increased in propionic acidaemia.

Coker M, Duran M, De Klerk JB, Kleijer WJ, Jakobs C, Huijmans JG. Coker M, et al. Among authors: de klerk jb. Prenat Diagn. 1996 Oct;16(10):941-4. doi: 10.1002/(SICI)1097-0223(199610)16:10<941::AID-PD965>3.0.CO;2-T. Prenat Diagn. 1996. PMID: 8938066

7

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

8

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.

9

Sudden infant death and lysinuric protein intolerance.

de Klerk JB, Duran M, Huijmans JG, Mancini GM. de Klerk JB, et al. Eur J Pediatr. 1996 Mar;155(3):256-7. doi: 10.1007/BF01953953. Eur J Pediatr. 1996. PMID: 8929742 No abstract available.

10

Juvenile hyaline fibromatosis: clinical heterogeneity in three patients.

Mancini GM, Stojanov L, Willemsen R, Kleijer WJ, Huijmans JG, van Diggelen OP, de Klerk JB, Vuzevski VD, Oranje AP. Mancini GM, et al. Among authors: de klerk jb. Dermatology. 1999;198(1):18-25. doi: 10.1159/000018058. Dermatology. 1999. PMID: 10026396

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