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Items: 1 to 20 of 99

1.

Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency.

Clarke CE, Alger S, Preece MA, Burdon MA, Chavda S, Denis S, Ferdinandusse S, Wanders RJ.

Neurology. 2004 Jul 13;63(1):188-9. Review. No abstract available.

PMID:
15249642
2.

A new defect of peroxisomal function involving pristanic acid: a case report.

McLean BN, Allen J, Ferdinandusse S, Wanders RJ.

J Neurol Neurosurg Psychiatry. 2002 Mar;72(3):396-9.

3.

Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency.

Ferdinandusse S, Overmars H, Denis S, Waterham HR, Wanders RJ, Vreken P.

J Lipid Res. 2001 Jan;42(1):137-41.

4.

Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders.

Ferdinandusse S, Rusch H, van Lint AE, Dacremont G, Wanders RJ, Vreken P.

J Lipid Res. 2002 Mar;43(3):438-44.

5.

Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency.

Thompson SA, Calvin J, Hogg S, Ferdinandusse S, Wanders RJ, Barker RA.

J Neurol Neurosurg Psychiatry. 2008 Apr;79(4):448-50. Epub 2007 Nov 21.

PMID:
18032455
6.

Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency.

Kapina V, Sedel F, Truffert A, Horvath J, Wanders RJ, Waterham HR, Picard F.

Neurology. 2010 Oct 5;75(14):1300-2. doi: 10.1212/WNL.0b013e3181f612a5. No abstract available.

PMID:
20921516
7.

Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency.

Van Veldhoven PP, Meyhi E, Squires RH, Fransen M, Fournier B, Brys V, Bennett MJ, Mannaerts GP.

Eur J Clin Invest. 2001 Aug;31(8):714-22.

PMID:
11473573
8.

Clinical consequences of defects in peroxisomal beta-oxidation.

Clayton PT.

Biochem Soc Trans. 2001 May;29(Pt 2):298-305. Review.

PMID:
11356171
9.

Subcellular localization and physiological role of alpha-methylacyl-CoA racemase.

Ferdinandusse S, Denis S, IJlst L, Dacremont G, Waterham HR, Wanders RJ.

J Lipid Res. 2000 Nov;41(11):1890-6.

10.

An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.

Smith EH, Gavrilov DK, Oglesbee D, Freeman WD, Vavra MW, Matern D, Tortorelli S.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S349-53. doi: 10.1007/s10545-010-9183-6. Epub 2010 Sep 4.

PMID:
20821052
11.

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.

Haugarvoll K, Johansson S, Tzoulis C, Haukanes BI, Bredrup C, Neckelmann G, Boman H, Knappskog PM, Bindoff LA.

Orphanet J Rare Dis. 2013 Jan 3;8:1. doi: 10.1186/1750-1172-8-1.

12.

Peroxisomes, lipid metabolism, and peroxisomal disorders.

Wanders RJ.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):16-27. Review.

PMID:
15464416
13.

Peroxisomal acyl-CoA-oxidase deficiency: two new cases.

Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E.

Am J Med Genet A. 2008 Jul 1;146A(13):1676-81. doi: 10.1002/ajmg.a.32298.

PMID:
18536048
14.

Prognostic significance of alpha-methylacyl-coA racemase among men with high grade prostatic intraepithelial neoplasia in prostate biopsies.

Stewart J, Fleshner N, Cole H, Toi A, Sweet J.

J Urol. 2008 May;179(5):1751-5; discussion 1755. doi: 10.1016/j.juro.2008.01.012. Epub 2008 Mar 17.

PMID:
18343427
15.

Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review.

Wierzbicki AS.

Biochem Soc Trans. 2007 Nov;35(Pt 5):881-6. Review.

PMID:
17956237
16.

Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4.

Verhagen JM, Huijmans JG, Williams M, van Ruyven RL, Bergen AA, Wouters CH, Brooks AS.

Am J Med Genet A. 2012 Nov;158A(11):2931-4. doi: 10.1002/ajmg.a.35611. Epub 2012 Sep 17.

PMID:
22987308
17.

Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.

Van Maldergem L, Moser AB, Vincent MF, Roland D, Reding R, Otte JB, Wanders RJ, Sokal E.

J Inherit Metab Dis. 2005;28(4):593-600.

PMID:
15902563
18.

Treatment of fragile-X-associated tremor/ataxia syndrome with deep brain stimulation.

Ferrara JM, Adam OR, Ondo WG.

Mov Disord. 2009 Jan 15;24(1):149-51. doi: 10.1002/mds.22354. No abstract available.

PMID:
18951504
19.

Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect.

Rosewich H, Waterham HR, Wanders RJ, Ferdinandusse S, Henneke M, Hunneman D, Gärtner J.

Neuropediatrics. 2006 Apr;37(2):95-8.

PMID:
16773508
20.

Alpha-methylacyl-CoA racemase from Mycobacterium tuberculosis. Mutational and structural characterization of the active site and the fold.

Savolainen K, Bhaumik P, Schmitz W, Kotti TJ, Conzelmann E, Wierenga RK, Hiltunen JK.

J Biol Chem. 2005 Apr 1;280(13):12611-20. Epub 2005 Jan 4.

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