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Items: 1 to 20 of 81

1.

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. Epub 2014 Feb 19.

2.

Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing.

Matsukawa T, Koshi KM, Mitsui J, Bannai T, Kawabe M, Ishiura H, Terao Y, Shimizu J, Murayama K, Yoshimura J, Doi K, Morishita S, Tsuji S, Goto J.

J Neurol Sci. 2017 Jan 15;372:6-10. doi: 10.1016/j.jns.2016.11.009. Epub 2016 Nov 9.

PMID:
28017249
3.

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE, Mackenzie A, Beaulieu CL, Mooyer PA; FORGE Canada Consortium, Wanders RJ, Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM.

Orphanet J Rare Dis. 2012 Nov 22;7:90. doi: 10.1186/1750-1172-7-90.

4.

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.

Lieber DS, Hershman SG, Slate NG, Calvo SE, Sims KB, Schmahmann JD, Mootha VK.

BMC Med Genet. 2014 Mar 6;15:30. doi: 10.1186/1471-2350-15-30.

5.

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC.

Am J Hum Genet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007. Epub 2010 Jul 30.

6.

Peroxisomal multifunctional protein-2 deficiency causes neuroinflammation and degeneration of Purkinje cells independent of very long chain fatty acid accumulation.

Verheijden S, Bottelbergs A, Krysko O, Krysko DV, Beckers L, De Munter S, Van Veldhoven PP, Wyns S, Kulik W, Nave KA, Ramer MS, Carmeliet P, Kassmann CM, Baes M.

Neurobiol Dis. 2013 Oct;58:258-69. doi: 10.1016/j.nbd.2013.06.006. Epub 2013 Jun 15.

PMID:
23777740
7.

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.

Amor DJ, Marsh AP, Storey E, Tankard R, Gillies G, Delatycki MB, Pope K, Bromhead C, Leventer RJ, Bahlo M, Lockhart PJ.

Neurol Genet. 2016 Oct 18;2(6):e114. eCollection 2016 Dec.

8.

Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.

Konkoľová J, Petrovič R, Chandoga J, Repiský M, Zelinková H, Kršiaková J, Kolníková M, Kantarská D, Šutovský S, Böhmer D.

Gene. 2015 Aug 15;568(1):61-8. doi: 10.1016/j.gene.2015.05.020. Epub 2015 May 9.

PMID:
25967389
9.

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR, Hiltunen JK, Wanders RJ, Glumoff T.

Am J Hum Genet. 2006 Jan;78(1):112-24. Epub 2005 Nov 15.

10.

Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.

van Grunsven EG, Mooijer PA, Aubourg P, Wanders RJ.

Hum Mol Genet. 1999 Aug;8(8):1509-16.

PMID:
10400999
11.

Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma.

Grønborg S, Krätzner R, Spiegler J, Ferdinandusse S, Wanders RJ, Waterham HR, Gärtner J.

Am J Med Genet A. 2010 Nov;152A(11):2845-9. doi: 10.1002/ajmg.a.33677.

PMID:
20949532
12.

D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia.

Nascimento J, Mota C, Lacerda L, Pacheco S, Chorão R, Martins E, Garrido C.

Pediatr Neurol. 2015 May;52(5):539-43. doi: 10.1016/j.pediatrneurol.2015.01.007. Epub 2015 Jan 24.

PMID:
25882080
13.

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.

14.

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

Ohba C, Osaka H, Iai M, Yamashita S, Suzuki Y, Aida N, Shimozawa N, Takamura A, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Eto Y, Tanaka F, Matsumoto N, Saitsu H.

Neurogenetics. 2013 Nov;14(3-4):225-32. doi: 10.1007/s10048-013-0375-8. Epub 2013 Oct 4.

PMID:
24091540
15.

Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis.

Verhoeven NM, Jakobs C, ten Brink HJ, Wanders RJ, Roe CR.

J Inherit Metab Dis. 1998 Oct;21(7):753-60.

PMID:
9819705
16.

Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.

van Grunsven EG, van Berkel E, Ijlst L, Vreken P, de Klerk JB, Adamski J, Lemonde H, Clayton PT, Cuebas DA, Wanders RJ.

Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2128-33.

17.
18.

D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.

Suzuki Y, Jiang LL, Souri M, Miyazawa S, Fukuda S, Zhang Z, Une M, Shimozawa N, Kondo N, Orii T, Hashimoto T.

Am J Hum Genet. 1997 Nov;61(5):1153-62.

19.

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
20.

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.

Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, Yalcinkaya C, Frints SG, Kalscheuer VM, Klooster J, Kamermans M, Abbink TE, Wolf NI, Sedel F, van der Knaap MS.

Lancet Neurol. 2013 Jul;12(7):659-68. doi: 10.1016/S1474-4422(13)70053-X. Epub 2013 May 22.

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