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Items: 1 to 20 of 33

1.

Management of X-linked adrenoleukodystrophy in Morocco: actual situation.

Benjelloun FZM, Kriouile Y, Cheillan D, Daoud-Tetouani H, Chabraoui L.

BMC Res Notes. 2017 Nov 7;10(1):567. doi: 10.1186/s13104-017-2902-4.

2.

An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree.

Mehrpour M, Gohari F, Dizaji MZ, Ahani A, Malicdan MC, Behnam B.

J Mol Genet Med. 2016 Jun;10(2). pii: 222. Epub 2016 Jun 19.

3.

Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.

Kemper AR, Brosco J, Comeau AM, Green NS, Grosse SD, Jones E, Kwon JM, Lam WK, Ojodu J, Prosser LA, Tanksley S.

Genet Med. 2017 Jan;19(1):121-126. doi: 10.1038/gim.2016.68. Epub 2016 Jun 23.

PMID:
27337030
4.

Capecitabine-induced leukoencephalopathy involving the bilateral corticospinal tracts.

Tan MB, McAdory LE.

J Radiol Case Rep. 2016 Mar 31;10(3):1-10. doi: 10.3941/jrcr.v10i3.2686. eCollection 2016 Mar.

5.

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man.

van de Beek MC, Dijkstra IM, van Lenthe H, Ofman R, Goldhaber-Pasillas D, Schauer N, Schackmann M, Engelen-Lee JY, Vaz FM, Kulik W, Wanders RJ, Engelen M, Kemp S.

PLoS One. 2016 Apr 28;11(4):e0154597. doi: 10.1371/journal.pone.0154597. eCollection 2016.

6.

MicroRNA Profiling Identifies miR-196a as Differentially Expressed in Childhood Adrenoleukodystrophy and Adult Adrenomyeloneuropathy.

Shah N, Singh I.

Mol Neurobiol. 2017 Mar;54(2):1392-1403. doi: 10.1007/s12035-016-9746-0. Epub 2016 Feb 3.

PMID:
26843114
7.

Peroxisomes in brain development and function.

Berger J, Dorninger F, Forss-Petter S, Kunze M.

Biochim Biophys Acta. 2016 May;1863(5):934-55. doi: 10.1016/j.bbamcr.2015.12.005. Epub 2015 Dec 11. Review.

8.

A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.

Karkar A, Barakat A, Bakhchane A, Fettah H, Slassi I, Dorboz I, Boespflug-Tanguy O, Nadifi S.

BMC Neurol. 2015 Nov 25;15:244. doi: 10.1186/s12883-015-0503-1.

9.

X-linked adrenoleukodystrophy presenting as attention deficit hyperactivity disorder.

Ilango TS, Nambi S.

Indian J Psychiatry. 2015 Apr-Jun;57(2):208-9. doi: 10.4103/0019-5545.158198.

10.

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.

Wiesinger C, Eichler FS, Berger J.

Appl Clin Genet. 2015 May 2;8:109-21. doi: 10.2147/TACG.S49590. eCollection 2015. Review.

11.

The difficulty in diagnosing X linked adrenoleucodystrophy and the importance of identifying cerebral involvement.

Patel S, Gutowski N.

BMJ Case Rep. 2015 May 12;2015. pii: bcr2015209732. doi: 10.1136/bcr-2015-209732.

12.

A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1.

Jwa HJ, Lee KS, Kim GH, Yoo HW, Lim HH.

Korean J Pediatr. 2014 Sep;57(9):416-9. doi: 10.3345/kjp.2014.57.9.416. Epub 2014 Sep 30.

13.

The stability of hexacosanoyl lysophosphatidylcholine in dried-blood spot quality control materials for X-linked adrenoleukodystrophy newborn screening.

Haynes CA, De Jesús VR.

Clin Biochem. 2015 Jan;48(1-2):8-10. doi: 10.1016/j.clinbiochem.2014.10.001. Epub 2014 Oct 12.

14.

Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.

Habekost CT, Schestatsky P, Torres VF, de Coelho DM, Vargas CR, Torrez V, Oses JP, Portela LV, Pereira Fdos S, Matte U, Jardim LB.

Orphanet J Rare Dis. 2014 Jan 13;9:6. doi: 10.1186/1750-1172-9-6.

15.

Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.

Theda C, Gibbons K, Defor TE, Donohue PK, Golden WC, Kline AD, Gulamali-Majid F, Panny SR, Hubbard WC, Jones RO, Liu AK, Moser AB, Raymond GV.

Mol Genet Metab. 2014 Jan;111(1):55-7. doi: 10.1016/j.ymgme.2013.10.019. Epub 2013 Nov 9.

16.

Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.

Wiesinger C, Kunze M, Regelsberger G, Forss-Petter S, Berger J.

J Biol Chem. 2013 Jun 28;288(26):19269-79. doi: 10.1074/jbc.M112.445445. Epub 2013 May 13.

17.

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.

18.

Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders.

Vanderver A, Hussey H, Schmidt JL, Pastor W, Hoffman HJ.

Semin Pediatr Neurol. 2012 Dec;19(4):219-23. doi: 10.1016/j.spen.2012.10.001.

19.

X-linked adreno leukodistrophy: Profiles of very long chain fatty acids in plasma and fibroblasts in eigth Serbian patients.

Grkovic S, Nikolic R, Djordjevic M, Stojanov L, Zivancevic-Simonovic S, Djordjevic-Denic G, Kecman B.

Indian J Clin Biochem. 2007 Sep;22(2):118-22. doi: 10.1007/BF02913328.

20.

X-linked adrenoleukodystrophy presenting as Addison's disease.

Morell BK, Teichler J, Budak K, Vollenweider J, Pavlicek V.

BMJ Case Rep. 2010 May 13;2010. pii: bcr1120092419. doi: 10.1136/bcr.11.2009.2419.

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