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Items: 10

1.

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.

Ferdinandusse S, Ebberink MS, Vaz FM, Waterham HR, Wanders RJ.

J Inherit Metab Dis. 2016 Jul;39(4):531-43. doi: 10.1007/s10545-016-9922-4. Epub 2016 Mar 4. Review.

2.

Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype.

Zhang Y, Liu Y, Li Y, Duan Y, Zhang K, Wang J, Dai Y.

BMC Med Genet. 2014 Sep 19;15:105. doi: 10.1186/s12881-014-0105-6.

3.

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Lévy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L.

Am J Hum Genet. 2013 Sep 5;93(3):579-86. doi: 10.1016/j.ajhg.2013.07.023.

4.

A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein.

Morita M, Kobayashi J, Yamazaki K, Kawaguchi K, Honda A, Sugai K, Shimozawa N, Koide R, Imanaka T.

JIMD Rep. 2013;10:95-102. doi: 10.1007/8904_2012_209. Epub 2013 Feb 12.

5.

The gene expression profiles of induced pluripotent stem cells from individuals with childhood cerebral adrenoleukodystrophy are consistent with proposed mechanisms of pathogenesis.

Wang XM, Yik WY, Zhang P, Lu W, Dranchak PK, Shibata D, Steinberg SJ, Hacia JG.

Stem Cell Res Ther. 2012 Oct 4;3(5):39. doi: 10.1186/scrt130.

6.

Large contiguous gene deletions in Sjögren-Larsson syndrome.

Engelstad H, Carney G, S'aulis D, Rise J, Sanger WG, Rudd MK, Richard G, Carr CW, Abdul-Rahman OA, Rizzo WB.

Mol Genet Metab. 2011 Nov;104(3):356-61. doi: 10.1016/j.ymgme.2011.05.015. Epub 2011 May 30.

7.

Fast diffusion of very long chain saturated fatty acids across a bilayer membrane and their rapid extraction by cyclodextrins: implications for adrenoleukodystrophy.

Pillai BK, Jasuja R, Simard JR, Hamilton JA.

J Biol Chem. 2009 Nov 27;284(48):33296-304. doi: 10.1074/jbc.M109.043737. Epub 2009 Sep 28.

8.

Bap31 enhances the endoplasmic reticulum export and quality control of human class I MHC molecules.

Ladasky JJ, Boyle S, Seth M, Li H, Pentcheva T, Abe F, Steinberg SJ, Edidin M.

J Immunol. 2006 Nov 1;177(9):6172-81.

9.

X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.

Anselm IA, Alkuraya FS, Salomons GS, Jakobs C, Fulton AB, Mazumdar M, Rivkin M, Frye R, Poussaint TY, Marsden D.

J Inherit Metab Dis. 2006 Feb;29(1):214-9. Erratum in: J Inherit Metab Dis. 2006 Dec;29(6):764. Anselm, IM [corrected to Anselm, IA].

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