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Items: 1 to 20 of 98

1.

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
2.

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

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

BMJ Case Rep. 2009;2009. pii: bcr08.2008.0814. doi: 10.1136/bcr.08.2008.0814. Epub 2009 Feb 2.

3.

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
4.

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.

5.

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.

6.

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.

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.

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
9.

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
10.

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.

11.

Phytol is lethal for Amacr-deficient mice.

Selkälä EM, Nair RR, Schmitz W, Kvist AP, Baes M, Hiltunen JK, Autio KJ.

Biochim Biophys Acta. 2015 Oct;1851(10):1394-405. doi: 10.1016/j.bbalip.2015.07.008. Epub 2015 Aug 4.

PMID:
26248199
12.

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.

Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ.

Nat Genet. 2000 Feb;24(2):188-91.

PMID:
10655068
13.

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.

Klouwer FC, Huffnagel IC, Ferdinandusse S, Waterham HR, Wanders RJ, Engelen M, Poll-The BT.

Neuropediatrics. 2016 Aug;47(4):205-20. doi: 10.1055/s-0036-1582140. Epub 2016 Apr 18. Review.

PMID:
27089543
14.

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.

15.

A mouse model for alpha-methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids.

Savolainen K, Kotti TJ, Schmitz W, Savolainen TI, Sormunen RT, Ilves M, Vainio SJ, Conzelmann E, Hiltunen JK.

Hum Mol Genet. 2004 May 1;13(9):955-65. Epub 2004 Mar 11.

PMID:
15016763
16.

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
17.

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
18.

Branched fatty acids in dairy and beef products markedly enhance alpha-methylacyl-CoA racemase expression in prostate cancer cells in vitro.

Mobley JA, Leav I, Zielie P, Wotkowitz C, Evans J, Lam YW, L'Esperance BS, Jiang Z, Ho SM.

Cancer Epidemiol Biomarkers Prev. 2003 Aug;12(8):775-83.

19.

Alpha-methylacyl-CoA racemase deletion has mutually counteracting effects on T-cell responses, associated with unchanged course of EAE.

Tafferner N, Barthelmes J, Eberle M, Ulshöfer T, Henke M, deBruin N, Mayer CA, Foerch C, Geisslinger G, Parnham MJ, Schiffmann S.

Eur J Immunol. 2016 Mar;46(3):570-81. doi: 10.1002/eji.201545782. Epub 2016 Jan 22.

20.

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

Wierzbicki AS.

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

PMID:
17956237

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