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Items: 1 to 20 of 127

1.

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.

2.

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.

PMID:
20821052
3.

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.

PMID:
18032455
4.

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
5.

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.

6.

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
7.

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.

8.

A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.

Arif B, Kumar KR, Seibler P, Vulinovic F, Fatima A, Winkler S, Nürnberg G, Thiele H, Nürnberg P, Jamil AZ, Brüggemann A, Abbas G, Klein C, Naz S, Lohmann K.

JAMA Neurol. 2013 Jun;70(6):783-7. doi: 10.1001/jamaneurol.2013.1174.

PMID:
23700088
9.

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.

10.

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.

11.

Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy.

Setchell KD, Heubi JE, Bove KE, O'Connell NC, Brewsaugh T, Steinberg SJ, Moser A, Squires RH Jr.

Gastroenterology. 2003 Jan;124(1):217-32.

PMID:
12512044
12.

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
13.

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.

PMID:
18343427
14.

Sequence variation in alpha-methylacyl-CoA racemase and risk of early-onset and familial prostate cancer.

Levin AM, Zuhlke KA, Ray AM, Cooney KA, Douglas JA.

Prostate. 2007 Oct 1;67(14):1507-13.

15.

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.

Lines MA, Jobling R, Brady L, Marshall CR, Scherer SW, Rodriguez AR, Lee L, Lang AE, Mestre TA, Wanders RJ, Ferdinandusse S, Tarnopolsky MA; Canadian Pediatric Genetic Disorders Sequencing Consortium (FORGE Canada)..

Neurology. 2014 Mar 18;82(11):963-8. doi: 10.1212/WNL.0000000000000219.

16.

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.

17.

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.

Kim JC, Lee NC, Hwu PW, Chien YH, Fahiminiya S, Majewski J, Watkins D, Rosenblatt DS.

Mol Genet Metab. 2012 Dec;107(4):664-8. doi: 10.1016/j.ymgme.2012.10.005.

PMID:
23141461
18.

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.

19.

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.

PMID:
22987308
20.

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N.

J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230.

PMID:
21785126
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