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Year Number of Results
1974 1
1975 1
1976 1
1977 2
1978 2
1979 3
1980 8
1981 8
1982 10
1983 11
1984 11
1985 14
1986 16
1987 22
1988 9
1989 18
1990 12
1991 22
1992 15
1993 23
1994 21
1995 28
1996 24
1997 19
1998 19
1999 19
2000 20
2001 20
2002 12
2003 20
2004 20
2005 27
2006 17
2007 18
2008 18
2009 18
2010 19
2011 19
2012 31
2013 22
2014 29
2015 26
2016 23
2017 26
2018 33
2019 39
2020 39
2021 40
2022 29
2023 30
2024 15

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866 results

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Page 1
An update on the diagnosis and treatment of adrenoleukodystrophy.
Gujral J, Sethuram S. Gujral J, et al. Curr Opin Endocrinol Diabetes Obes. 2023 Feb 1;30(1):44-51. doi: 10.1097/MED.0000000000000782. Epub 2022 Nov 14. Curr Opin Endocrinol Diabetes Obes. 2023. PMID: 36373727 Review.
PURPOSE OF REVIEW: The present review summarizes recent advances in the diagnosis and management of patients with X-linked adrenoleukodystrophy (ALD). RECENT FINDINGS: Although ALD screening has been on the list of Recommended Uniform Screening Panel since 2016, only 30 st …
PURPOSE OF REVIEW: The present review summarizes recent advances in the diagnosis and management of patients with X-linked adrenoleukodys …
X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.
Turk BR, Theda C, Fatemi A, Moser AB. Turk BR, et al. Int J Dev Neurosci. 2020 Feb;80(1):52-72. doi: 10.1002/jdn.10003. Epub 2020 Jan 26. Int J Dev Neurosci. 2020. PMID: 31909500 Free PMC article. Review.
Adrenoleukodystrophy (ALD) is a rare X-linked disease caused by a mutation of the peroxisomal ABCD1 gene. ...
Adrenoleukodystrophy (ALD) is a rare X-linked disease caused by a mutation of the peroxisomal ABCD1 gene. ...
The Changing Face of Adrenoleukodystrophy.
Zhu J, Eichler F, Biffi A, Duncan CN, Williams DA, Majzoub JA. Zhu J, et al. Endocr Rev. 2020 Aug 1;41(4):577-93. doi: 10.1210/endrev/bnaa013. Endocr Rev. 2020. PMID: 32364223 Free PMC article. Review.
Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to mutations in ABCD1. ...
Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to mutations in ABCD1. ...
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. Engelen M, et al. Orphanet J Rare Dis. 2012 Aug 13;7:51. doi: 10.1186/1750-1172-7-51. Orphanet J Rare Dis. 2012. PMID: 22889154 Free PMC article.
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; C2 …
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene t …
Editorial.
Plontke SK. Plontke SK. Laryngorhinootologie. 2021 Apr;100(S 01):S1. doi: 10.1055/s-1397-0832. Epub 2021 Apr 30. Laryngorhinootologie. 2021. PMID: 34352897 Free PMC article.
Directed by George Miller, this film shows the true story of a boy named Lorenzo Michael Murphy Odone, who was diagnosed in 1984 at the age of 6 with the rare neural disease adrenoleukodystrophy (ALD). The movie highlights the manifold problems associated with rare disease …
Directed by George Miller, this film shows the true story of a boy named Lorenzo Michael Murphy Odone, who was diagnosed in 1984 at the age …
X-linked cerebral adrenoleukodystrophy.
Weldrick CL, Boers P, Kiely P, O'Halloran L. Weldrick CL, et al. BMJ Case Rep. 2023 Oct 31;16(10):e237905. doi: 10.1136/bcr-2020-237905. BMJ Case Rep. 2023. PMID: 37907311
A pathological diagnosis of tumefactive multiple sclerosis was made, but also rare metabolic disorders such as X-linked adrenoleukodystrophy (X-ALD) were proposed. Serum very long-chain fatty acids were significantly elevated. ...
A pathological diagnosis of tumefactive multiple sclerosis was made, but also rare metabolic disorders such as X-linked adrenoleukodystro …
X-linked adrenoleukodystrophy.
Moser HW, Mahmood A, Raymond GV. Moser HW, et al. Nat Clin Pract Neurol. 2007 Mar;3(3):140-51. doi: 10.1038/ncpneuro0421. Nat Clin Pract Neurol. 2007. PMID: 17342190 Review.
X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. ...
X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membran …
Adrenoleukodystrophy.
Moser HW. Moser HW. Curr Opin Neurol. 1995 Jun;8(3):221-6. doi: 10.1097/00019052-199506000-00011. Curr Opin Neurol. 1995. PMID: 7551122 Review.
The main advances concerning adrenoleukodystrophy have been in the fields of genetics and therapy. Abnormalities in the 'putative gene' reported in 1993 have been confirmed. Mutations in this gene have been demonstrated in all of the 80 adrenoleukodystrophy families …
The main advances concerning adrenoleukodystrophy have been in the fields of genetics and therapy. Abnormalities in the 'putative gen …
Peroxisomal leukoencephalopathy.
Poll-The BT, Engelen M. Poll-The BT, et al. Semin Neurol. 2012 Feb;32(1):42-50. doi: 10.1055/s-0032-1306385. Epub 2012 Mar 15. Semin Neurol. 2012. PMID: 22422205 Review.
Demyelinative lesions are the hallmark of the cerebral form of X-linked adrenoleukodystrophy and may appear in a similar way in patients with adrenomyeloneuropathy progressing to a cerebral form. ...Treatment of the peroxisomal leukoencephalopathies is largely symptomatic, …
Demyelinative lesions are the hallmark of the cerebral form of X-linked adrenoleukodystrophy and may appear in a similar way in patie …
Adrenoleukodystrophy.
Lenard HG. Lenard HG. Neuropediatrics. 1984 Sep;15 Suppl:16-9. doi: 10.1055/s-2008-1052375. Neuropediatrics. 1984. PMID: 6100794
The dynamics of clinical symptomatology and neuropathological changes are different in adrenoleukodystrophy and adrenomyeloneuropathy. The observation of both and of intermediate conditions within families suggests a continuum of disease states caused by a single error of …
The dynamics of clinical symptomatology and neuropathological changes are different in adrenoleukodystrophy and adrenomyeloneuropathy …
866 results