Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 2
1977 1
1978 2
1979 2
1980 5
1981 6
1982 2
1983 3
1984 5
1985 7
1986 6
1987 11
1988 6
1989 7
1990 5
1991 7
1992 6
1993 6
1994 12
1995 16
1996 11
1997 13
1998 10
1999 8
2000 12
2001 13
2002 6
2003 11
2004 10
2005 8
2006 13
2007 14
2008 16
2009 12
2010 8
2011 14
2012 16
2013 10
2014 12
2015 14
2016 15
2017 19
2018 17
2019 24
2020 16
2021 22
2022 12
2023 16
2024 6

Text availability

Article attribute

Article type

Publication date

Search Results

447 results

Results by year

Filters applied: . Clear all
Page 1
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Köhler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelmann MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund TC, Orchard PJ, Kuehl JS, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC. Engelen M, et al. Neurology. 2022 Nov 22;99(21):940-951. doi: 10.1212/WNL.0000000000201374. Epub 2022 Sep 29. Neurology. 2022. PMID: 36175155 Free PMC article.
Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive metabolic disorder characterized by 3 core clinical syndromes: a slowly progressive myeloneuropathy, a rapidly progressive inflammatory leukodystrophy (cerebral ALD), and primary adrenal …
Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive metabolic disorder characterized by 3 core clin …
Adult Leukodystrophies: A Step-by-Step Diagnostic Approach.
Resende LL, de Paiva ARB, Kok F, da Costa Leite C, Lucato LT. Resende LL, et al. Radiographics. 2019 Jan-Feb;39(1):153-168. doi: 10.1148/rg.2019180081. Radiographics. 2019. PMID: 30620693 Review.
The first step is to identify symmetric white matter involvement, which is more commonly observed in these patients. The next step is to fit the symmetric white matter involvement into one of the proposed patterns. ...
The first step is to identify symmetric white matter involvement, which is more commonly observed in these patients. The next step is …
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA. Eichler F, et al. N Engl J Med. 2017 Oct 26;377(17):1630-1638. doi: 10.1056/NEJMoa1700554. Epub 2017 Oct 4. N Engl J Med. 2017. PMID: 28976817 Free PMC article. Clinical Trial.
BACKGROUND: In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. Cerebral adrenoleukodystrophy is characterized by demyelination and neurodegeneration. ...
BACKGROUND: In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. Cerebral adrenoleuko …
Imaging in X-Linked Adrenoleukodystrophy.
van de Stadt SIW, Huffnagel IC, Turk BR, van der Knaap MS, Engelen M. van de Stadt SIW, et al. Neuropediatrics. 2021 Aug;52(4):252-260. doi: 10.1055/s-0041-1730937. Epub 2021 Jun 30. Neuropediatrics. 2021. PMID: 34192790 Review.
Magnetic resonance imaging (MRI) is the gold standard for the detection of cerebral lesions in X-linked adrenoleukodystrophy (ALD). ALD is one of the most common peroxisomal disorders and is characterized by a defect in degradation of very long chain fatty acids (VLCFA), r …
Magnetic resonance imaging (MRI) is the gold standard for the detection of cerebral lesions in X-linked adrenoleukodystrophy (ALD). A …
X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M, Todisco T, Bizzarri C. Cappa M, et al. Front Endocrinol (Lausanne). 2023 Nov 16;14:1309053. doi: 10.3389/fendo.2023.1309053. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38034003 Free PMC article. Review.
X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the ATP-binding cassette transporters sub-family D member 1 gene (ABCD1) producing adrenoleukodystrophy protein (ALDP). ...Novel approache …
X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the A …
Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need.
Honey MIJ, Jaspers YRJ, Engelen M, Kemp S, Huffnagel IC. Honey MIJ, et al. Cells. 2021 Dec 6;10(12):3427. doi: 10.3390/cells10123427. Cells. 2021. PMID: 34943935 Free PMC article. Review.
X-linked adrenoleukodystrophy (ALD) is an inherited progressive neurometabolic disease caused by mutations in the ABCD1 gene and the accumulation of very long-chain fatty acids in plasma and tissues. ...In the absence of a genotype-phenotype correlation, the clinical outco …
X-linked adrenoleukodystrophy (ALD) is an inherited progressive neurometabolic disease caused by mutations in the ABCD1 gene and the …
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 er …
The dynamics of clinical symptomatology and neuropathological changes are different in adrenoleukodystrophy and adrenomyeloneuropathy …
Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies.
Ma CY, Li C, Zhou X, Zhang Z, Jiang H, Liu H, Chen HJ, Tse HF, Liao C, Lian Q. Ma CY, et al. Biomed Pharmacother. 2021 Nov;143:112214. doi: 10.1016/j.biopha.2021.112214. Epub 2021 Sep 21. Biomed Pharmacother. 2021. PMID: 34560537 Free article. Review.
X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder associated with mutations of the ABCD1 gene that encodes a peroxisomal transmembrane protein. ...The Abcd1 and Abcd1/Abcd2 knock-out mouse models as well as the deficiency of Abcd1 rabbit mode …
X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder associated with mutations of the ABCD1 gene that enc …
Peroxisomes in brain development and function.
Berger J, Dorninger F, Forss-Petter S, Kunze M. Berger J, et al. Biochim Biophys Acta. 2016 May;1863(5):934-55. doi: 10.1016/j.bbamcr.2015.12.005. Epub 2015 Dec 11. Biochim Biophys Acta. 2016. PMID: 26686055 Free PMC article. Review.
Whilst correlating peroxisomal properties with a compilation of pathologies observed in human patients and mouse models lacking all or individual peroxisomal functions, we discuss the importance of peroxisomal metabolites and tissue- and cell type-specific contributions to …
Whilst correlating peroxisomal properties with a compilation of pathologies observed in human patients and mouse models lacking all o …
Neonatal seizures.
Painter MJ, Bergman I, Crumrine P. Painter MJ, et al. Pediatr Clin North Am. 1986 Feb;33(1):91-109. doi: 10.1016/s0031-3955(16)34971-9. Pediatr Clin North Am. 1986. PMID: 3513103 Review.
A significant number of neonates with seizures have poor outcomes, and both duration of seizure activity and numbers of anticonvulsants required in treatment predict the outcome....
A significant number of neonates with seizures have poor outcomes, and both duration of seizure activity and numbers of anticonvulsants requ …
447 results