Mooyer PA - Search Results

1

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy.

Kemp S, Mooyer PA, Bolhuis PA, van Geel BM, Mandel JL, Barth PG, Aubourg P, Wanders RJ. Kemp S, et al. Among authors: mooyer pa. J Inherit Metab Dis. 1996;19(5):667-74. doi: 10.1007/BF01799844. J Inherit Metab Dis. 1996. PMID: 8892025

2

D-2-hydroxyglutaric acidaemia: identification of a new enzyme, D-2-hydroxyglutarate dehydrogenase, localized in mitochondria.

Wanders RJ, Mooyer P. Wanders RJ, et al. J Inherit Metab Dis. 1995;18(2):194-6. doi: 10.1007/BF00711764. J Inherit Metab Dis. 1995. PMID: 7564244 No abstract available.

3

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy.

Kemp S, Valianpour F, Denis S, Ofman R, Sanders RJ, Mooyer P, Barth PG, Wanders RJ. Kemp S, et al. Mol Genet Metab. 2005 Feb;84(2):144-51. doi: 10.1016/j.ymgme.2004.09.015. Mol Genet Metab. 2005. PMID: 15670720

4

Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid.

Kemp S, Valianpour F, Mooyer PA, Kulik W, Wanders RJ. Kemp S, et al. Among authors: mooyer pa. Clin Chem. 2004 Oct;50(10):1824-6. doi: 10.1373/clinchem.2004.038539. Clin Chem. 2004. PMID: 15388659 No abstract available.

5

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

Ebberink MS, Mooyer PA, Koster J, Dekker CJ, Eyskens FJ, Dionisi-Vici C, Clayton PT, Barth PG, Wanders RJ, Waterham HR. Ebberink MS, et al. Among authors: mooyer pa. Hum Mutat. 2009 Jan;30(1):93-8. doi: 10.1002/humu.20833. Hum Mutat. 2009. PMID: 18712838

6

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.

van de Stadt SIW, Mooyer PAW, Dijkstra IME, Dekker CJM, Vats D, Vera M, Ruzhnikov MRZ, van Haren K, Tang N, Koop K, Willemsen MA, Hui J, Vaz FM, Ebberink MS, Engelen M, Kemp S, Ferdinandusse S. van de Stadt SIW, et al. Among authors: mooyer paw. Genes (Basel). 2021 Nov 30;12(12):1930. doi: 10.3390/genes12121930. Genes (Basel). 2021. PMID: 34946879 Free PMC article.

7

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

Kleijer WJ, Garritsen VH, Linnebank M, Mooyer P, Huijmans JG, Mustonen A, Simola KO, Arslan-Kirchner M, Battini R, Briones P, Cardo E, Mandel H, Tschiedel E, Wanders RJ, Koch HG. Kleijer WJ, et al. J Inherit Metab Dis. 2002 Sep;25(5):399-410. doi: 10.1023/a:1020108002877. J Inherit Metab Dis. 2002. PMID: 12408190

8

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage.

Ferrer I, Kapfhammer JP, Hindelang C, Kemp S, Troffer-Charlier N, Broccoli V, Callyzot N, Mooyer P, Selhorst J, Vreken P, Wanders RJ, Mandel JL, Pujol A. Ferrer I, et al. Hum Mol Genet. 2005 Dec 1;14(23):3565-77. doi: 10.1093/hmg/ddi384. Epub 2005 Oct 13. Hum Mol Genet. 2005. PMID: 16223892

9

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gärtner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT. Ferdinandusse S, et al. Among authors: mooyer pa. Ann Neurol. 2006 Jan;59(1):92-104. doi: 10.1002/ana.20702. Ann Neurol. 2006. PMID: 16278854

10

Plasmalogens participate in very-long-chain fatty acid-induced pathology.

Brites P, Mooyer PA, El Mrabet L, Waterham HR, Wanders RJ. Brites P, et al. Among authors: mooyer pa. Brain. 2009 Feb;132(Pt 2):482-92. doi: 10.1093/brain/awn295. Epub 2008 Nov 20. Brain. 2009. PMID: 19022859

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