Wanders RJ - Search Results

1

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E. Barøy T, et al. Among authors: wanders rj. Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305. Epub 2015 Jul 28. Hum Mol Genet. 2015. PMID: 26220973

2

Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts.

Heikoop JC, Ossendorp BC, Wanders RJ, Wirtz KW, Tager JM. Heikoop JC, et al. Among authors: wanders rj. FEBS Lett. 1992 Mar 9;299(2):201-4. doi: 10.1016/0014-5793(92)80247-e. FEBS Lett. 1992. PMID: 1347505 Free article.

3

Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study.

Heikoop JC, Wanders RJ, Strijland A, Purvis R, Schutgens RB, Tager JM. Heikoop JC, et al. Among authors: wanders rj. Hum Genet. 1992 Jun;89(4):439-44. doi: 10.1007/BF00194319. Hum Genet. 1992. PMID: 1618493

4

Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts.

Heikoop JC, Van den Berg M, Strijland A, Weijers PJ, Schutgens RB, Just WW, Wanders RJ, Tager JM. Heikoop JC, et al. Among authors: wanders rj. Biochim Biophys Acta. 1991 Jul 26;1097(1):62-70. doi: 10.1016/0925-4439(91)90025-5. Biochim Biophys Acta. 1991. PMID: 1677591

5

X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus.

Van Maldergem L, Espeel M, Roels F, Petit C, Dacremont G, Wanders RJ, Verloes A, Gillerot Y. Van Maldergem L, et al. Among authors: wanders rj. Hum Genet. 1991 Oct;87(6):661-4. doi: 10.1007/BF00201721. Hum Genet. 1991. PMID: 1937466

6

Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.

Heikoop JC, van Roermund CW, Just WW, Ofman R, Schutgens RB, Heymans HS, Wanders RJ, Tager JM. Heikoop JC, et al. Among authors: wanders rj. J Clin Invest. 1990 Jul;86(1):126-30. doi: 10.1172/JCI114674. J Clin Invest. 1990. PMID: 2365812 Free PMC article.

7

Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type.

Oorthuys JW, Loewer-Sieger DH, Schutgens RB, Wanders RJ, Heymans HS, Bleeker-Wagemakers EM. Oorthuys JW, et al. Among authors: wanders rj. Ophthalmic Paediatr Genet. 1987 Nov;8(3):183-5. doi: 10.3109/13816818709031467. Ophthalmic Paediatr Genet. 1987. PMID: 3438058

8

Peroxisomal beta-oxidation of polyunsaturated long chain fatty acids in human fibroblasts. The polyunsaturated and the saturated long chain fatty acids are retroconverted by the same acyl-CoA oxidase.

Christensen E, Woldseth B, Hagve TA, Poll-The BT, Wanders RJ, Sprecher H, Stokke O, Christophersen BO. Christensen E, et al. Among authors: wanders rj. Scand J Clin Lab Invest Suppl. 1993;215:61-74. doi: 10.3109/00365519309090698. Scand J Clin Lab Invest Suppl. 1993. PMID: 8327852

9

Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata.

Schutgens RB, Bouman IW, Nijenhuis AA, Wanders RJ, Frumau ME. Schutgens RB, et al. Among authors: wanders rj. Clin Chem. 1993 Aug;39(8):1632-7. Clin Chem. 1993. PMID: 8353949

10

Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.

Motley AM, Tabak HF, Smeitink JA, Poll-The BT, Barth PG, Wanders RJ. Motley AM, et al. Among authors: wanders rj. Biochim Biophys Acta. 1996 Apr 12;1315(3):153-8. doi: 10.1016/0925-4439(95)00114-x. Biochim Biophys Acta. 1996. PMID: 8611652 Free article.

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