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

Year Number of Results
1979 1
1980 2
1984 1
1985 2
1986 3
1987 3
1990 1
1991 2
1992 5
1993 4
1994 11
1995 9
1996 10
1997 7
1998 9
1999 9
2000 14
2001 9
2002 5
2003 6
2004 12
2005 9
2006 9
2007 9
2008 12
2009 12
2010 13
2011 11
2012 15
2013 9
2014 8
2015 8
2016 11
2017 10
2018 14
2019 17
2020 13
2021 14
2022 9
2023 17
2024 4

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312 results

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Page 1
History of gene therapy.
Wirth T, Parker N, Ylä-Herttuala S. Wirth T, et al. Gene. 2013 Aug 10;525(2):162-9. doi: 10.1016/j.gene.2013.03.137. Epub 2013 Apr 23. Gene. 2013. PMID: 23618815 Review.
Nevertheless, our knowledge continues to grow and during the course of time more safety data has become available that helps us to develop better gene therapy approaches. ...
Nevertheless, our knowledge continues to grow and during the course of time more safety data has become available that helps us to de …
Adulthood leukodystrophies.
Köhler W, Curiel J, Vanderver A. Köhler W, et al. Nat Rev Neurol. 2018 Feb;14(2):94-105. doi: 10.1038/nrneurol.2017.175. Epub 2018 Jan 5. Nat Rev Neurol. 2018. PMID: 29302065 Review.
Ultimately, this Review aims to provide helpful suggestions to identify treatable adulthood leukodystrophies at an early stage in the disease course....
Ultimately, this Review aims to provide helpful suggestions to identify treatable adulthood leukodystrophies at an early stage in the diseas …
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.
Hematopoietic stem cell transplantation (HSCT) remains the only disease-modifying therapy if completed in the early stages of cerebral ALD, but it does not affect the course of adrenal insufficiency. It has significant associated morbidity and mortality. ...
Hematopoietic stem cell transplantation (HSCT) remains the only disease-modifying therapy if completed in the early stages of cerebral ALD, …
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.
Hematopoietic stem cell transplant (HSCT) remains the only successful treatment option available for early cerebral ALD but does not reverse neurological changes or affect the course of adrenal insufficiency. There remains a significant knowledge gap in our understanding a …
Hematopoietic stem cell transplant (HSCT) remains the only successful treatment option available for early cerebral ALD but does not reverse …
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.
This guideline addresses a clinical need in the ALD community worldwide as the number of overall diagnoses and presymptomatic individuals is increasing because of newborn screening and greater availability of next-generation sequencing. The poor ability to predict the dise …
This guideline addresses a clinical need in the ALD community worldwide as the number of overall diagnoses and presymptomatic individuals is …
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.
The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains unpredictable. This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encou …
The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains …
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.
Although structural MRI of the brain can detect the presence and extent of cerebral lesions, it does not predict if and when cerebral demyelination will occur. There is a great need for imaging techniques that predict onset of cerebral ALD before lesions appear. ...
Although structural MRI of the brain can detect the presence and extent of cerebral lesions, it does not predict if and when cerebral …
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.
The leukoencephalopathy is progressive, with or without peripheral nerve involvement, in patients with a prolonged course of the disease. MRI characteristics in the severe phenotype of rhizomelic chondrodysplasia punctata include supratentorial white matter abnormalities, …
The leukoencephalopathy is progressive, with or without peripheral nerve involvement, in patients with a prolonged course of the dise …
Leukodystrophies.
Perlman SJ, Mar S. Perlman SJ, et al. Adv Exp Med Biol. 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. Adv Exp Med Biol. 2012. PMID: 22411242 Review.
Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and prognostication. The clinical characteristics, etiologies, diagnostic testing and treatment options are reviewed in detail …
Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, tre …
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.
Follow-up of patients treated with Lorenzo's Oil suggests that this therapy does not alter the course of the illness in symptomatic patients. However, dietary therapy started before the development of symptoms may reduce the frequency and severity of subsequent neurologica …
Follow-up of patients treated with Lorenzo's Oil suggests that this therapy does not alter the course of the illness in symptomatic p …
312 results