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Results: 1 to 20 of 184

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
[PubMed - indexed for MEDLINE]
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.

PMID:
21686617
[PubMed]
Free PMC Article
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.

PMID:
11160375
[PubMed - indexed for MEDLINE]
Free Article
4.

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
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
11893780
[PubMed - indexed for MEDLINE]
Free Article
6.

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
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
11861706
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
23286897
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
11060359
[PubMed - indexed for MEDLINE]
Free Article
13.

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
[PubMed - indexed for MEDLINE]
Free Article
14.

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
[PubMed - indexed for MEDLINE]
15.

Clinical consequences of defects in peroxisomal beta-oxidation.

Clayton PT.

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

PMID:
11356171
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.

Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CW, IJlst L, Moser AB, Wanders RJ, Waterham HR.

Hum Mutat. 2007 Sep;28(9):904-12.

PMID:
17458872
[PubMed - indexed for MEDLINE]
18.

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

Wierzbicki AS.

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

PMID:
17956237
[PubMed - indexed for MEDLINE]
19.

Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall.

Soorani-Lunsing RJ, van Spronsen FJ, Stolte-Dijkstra I, Wanders RJ, Ferdinandusse S, Waterham HR, Poll-The BT, Rake JP.

J Inherit Metab Dis. 2005;28(6):1172-4.

PMID:
16435222
[PubMed - indexed for MEDLINE]
20.

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy.

Ferdinandusse S, Barker S, Lachlan K, Duran M, Waterham HR, Wanders RJ, Hammans S.

J Neurol Neurosurg Psychiatry. 2010 Mar;81(3):310-2. doi: 10.1136/jnnp.2009.176255.

PMID:
20185470
[PubMed - indexed for MEDLINE]

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