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Items: 1 to 20 of 211

1.

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, Poll-The BT.

Orphanet J Rare Dis. 2012 Aug 13;7:51. doi: 10.1186/1750-1172-7-51.

2.

Adrenoleukodystrophy.

Cappa M, Bizzarri C, Vollono C, Petroni A, Banni S.

Endocr Dev. 2011;20:149-60. doi: 10.1159/000321236. Epub 2010 Dec 16. Review.

PMID:
21164268
3.

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.

Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S.

Brain. 2014 Mar;137(Pt 3):693-706. doi: 10.1093/brain/awt361. Epub 2014 Jan 29.

PMID:
24480483
4.

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.

Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW.

Hum Mutat. 2001 Dec;18(6):499-515. Review.

PMID:
11748843
5.

[Examination of very long chain fatty acids in diagnosis of x-linked adrenoleukodystrophy].

Stradomska TJ, Tylki-Szymańska A.

Pediatr Pol. 1996 Mar;71(3):197-201. Polish.

PMID:
8966090
6.

[X-linked adrenoleukodystrophy].

Aubourg P.

Ann Endocrinol (Paris). 2007 Dec;68(6):403-11. Epub 2007 May 29. Review. French.

PMID:
17532287
7.

Biochemical aspects of X-linked adrenoleukodystrophy.

Kemp S, Wanders R.

Brain Pathol. 2010 Jul;20(4):831-7. doi: 10.1111/j.1750-3639.2010.00391.x. Review.

PMID:
20626744
8.

Evaluation of pharmacological induction of fatty acid beta-oxidation in X-linked adrenoleukodystrophy.

McGuinness MC, Zhang HP, Smith KD.

Mol Genet Metab. 2001 Sep-Oct;74(1-2):256-63.

PMID:
11592822
9.

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.

Chu SS, Ye J, Zhang HW, Han LS, Qiu WJ, Gao XL, Gu XF.

World J Pediatr. 2015 Nov;11(4):366-73. doi: 10.1007/s12519-015-0044-0. Epub 2015 Oct 11.

PMID:
26454440
10.

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.

Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ.

Am J Hum Genet. 2002 Jun;70(6):1520-31. Epub 2002 Apr 29.

11.

The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.

Ofman R, Dijkstra IM, van Roermund CW, Burger N, Turkenburg M, van Cruchten A, van Engen CE, Wanders RJ, Kemp S.

EMBO Mol Med. 2010 Mar;2(3):90-7. doi: 10.1002/emmm.201000061.

12.

X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.

Kemp S, Berger J, Aubourg P.

Biochim Biophys Acta. 2012 Sep;1822(9):1465-74. doi: 10.1016/j.bbadis.2012.03.012. Epub 2012 Mar 28. Review.

13.

X-linked adrenoleukodystrophy.

Moser HW, Mahmood A, Raymond GV.

Nat Clin Pract Neurol. 2007 Mar;3(3):140-51. Review.

PMID:
17342190
14.
15.

ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN.

O'Neill GN, Aoki M, Brown RH Jr.

Neurology. 2001 Dec 11;57(11):1956-62.

PMID:
11739809
16.

Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy.

McGuinness MC, Lu JF, Zhang HP, Dong GX, Heinzer AK, Watkins PA, Powers J, Smith KD.

Mol Cell Biol. 2003 Jan;23(2):744-53.

17.

Therapy of X-linked adrenoleukodystrophy.

Semmler A, Köhler W, Jung HH, Weller M, Linnebank M.

Expert Rev Neurother. 2008 Sep;8(9):1367-79. doi: 10.1586/14737175.8.9.1367. Review.

18.

Clinical and therapeutic aspects of adrenoleukodystrophy and adrenomyeloneuropathy.

Moser HW.

J Neuropathol Exp Neurol. 1995 Sep;54(5):740-5. Review.

PMID:
7666063
19.

[X-linked adrenoleukodystrophy--2 case reports].

Dumić M, Ille J, Plavsić V, Filipović-Grcić B, Vrljicak K, Barisić N, Roscher A.

Lijec Vjesn. 1998 Jan-Feb;120(1-2):19-23. Croatian.

PMID:
9650481
20.

Mouse very long-chain acyl-CoA synthetase in X-linked adrenoleukodystrophy.

Heinzer AK, Kemp S, Lu JF, Watkins PA, Smith KD.

J Biol Chem. 2002 Aug 9;277(32):28765-73. Epub 2002 Jun 4.

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