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

Year Number of Results
1994 2
1995 1
1996 1
1997 1
2000 3
2003 1
2004 1
2005 1
2009 2
2011 1
2012 1
2013 1
2014 1
2015 1
2016 1
2020 2
2021 2
2022 1
2023 2
2024 0

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Page 1
Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy: Timing and Treatment.
Mallack EJ, Van Haren KP, Torrey A, van de Stadt S, Engelen M, Raymond GV, Fatemi A, Eichler FS. Mallack EJ, et al. Neurology. 2022 Aug 1;99(5):e512-e520. doi: 10.1212/WNL.0000000000200571. Neurology. 2022. PMID: 35609989 Free PMC article.
BACKGROUND AND OBJECTIVES: We sought to characterize the natural history and standard-of-care practices between the radiologic appearance of brain lesions, the appearance of lesional enhancement, and treatment with hematopoietic stem-cell transplant or gene therapy among b …
BACKGROUND AND OBJECTIVES: We sought to characterize the natural history and standard-of-care practices between the radiologic appearance of …
Childhood-onset cerebral X-linked adrenoleukodystrophy.
Laan LA, Bredius RG, de Coo IF, Bakker D, Egeler RM. Laan LA, et al. Lancet. 2000 Nov 4;356(9241):1608-9. doi: 10.1016/s0140-6736(05)74456-1. Lancet. 2000. PMID: 11075798 No abstract available.
Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy.
Shapiro E, Krivit W, Lockman L, Jambaqué I, Peters C, Cowan M, Harris R, Blanche S, Bordigoni P, Loes D, Ziegler R, Crittenden M, Ris D, Berg B, Cox C, Moser H, Fischer A, Aubourg P. Shapiro E, et al. Lancet. 2000 Aug 26;356(9231):713-8. doi: 10.1016/S0140-6736(00)02629-5. Lancet. 2000. PMID: 11085690
BACKGROUND: The childhood-onset cerebral form of X-linked adrenoleukodystrophy, a demyelinating disorder of the central nervous system, leads to a vegetative state and death within 3-5 years once clinical symptoms are detectable. The hypothesis to be t …
BACKGROUND: The childhood-onset cerebral form of X-linked adrenoleukodystrophy, a demyelinating disorder of the …
Pathophysiology of X-linked adrenoleukodystrophy.
Berger J, Forss-Petter S, Eichler FS. Berger J, et al. Biochimie. 2014 Mar;98(100):135-42. doi: 10.1016/j.biochi.2013.11.023. Epub 2013 Dec 4. Biochimie. 2014. PMID: 24316281 Free PMC article. Review.
Currently the molecular basis for the clinical heterogeneity of X-linked adrenoleukodystrophy (X-ALD) is poorly understood. The genetic bases for all different phenotypic variants of X-ALD are mutations in the gene encoding the peroxisomal ATP-binding cassette (ABC) transp …
Currently the molecular basis for the clinical heterogeneity of X-linked adrenoleukodystrophy (X-ALD) is poorly understood. The genet …
Childhood cerebral form of adrenoleukodystrophy: short-term effect of bone marrow transplantation on brain MR observations.
Loes DJ, Stillman AE, Hite S, Shapiro E, Lockman L, Latchaw RE, Moser H, Krivit W. Loes DJ, et al. AJNR Am J Neuroradiol. 1994 Oct;15(9):1767-71. AJNR Am J Neuroradiol. 1994. PMID: 7847226 Free PMC article.
PURPOSE: To report the serial brain MR observations in patients with childhood-onset cerebral adrenoleukodystrophy 1 to 2 years after bone marrow transplantation. ...CONCLUSION: Bone marrow transplantation can affect brain MR observations …
PURPOSE: To report the serial brain MR observations in patients with childhood-onset cerebral adrenoleukodyst …
Adult-onset adrenoleukodystrophy presenting with status epilepticus and psychosis.
Mehta AM, Prabhu M, Krishnan G. Mehta AM, et al. BMJ Case Rep. 2021 Nov 30;14(11):e244757. doi: 10.1136/bcr-2021-244757. BMJ Case Rep. 2021. PMID: 34848406 Free PMC article.
Adrenoleukodystrophy (ALD) is an X linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome, that affects 1 in 20 000 people. ...The phenotypic variability ranges from cerebral inflammatory demyelination of childhood …
Adrenoleukodystrophy (ALD) is an X linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome, …
Gene therapy for neurodegenerative disorders in children: dreams and realities.
Boespflug-Tanguy O, Sevin C, Piguet F. Boespflug-Tanguy O, et al. Arch Pediatr. 2023 Nov;30(8S1):8S32-8S40. doi: 10.1016/S0929-693X(23)00225-7. Arch Pediatr. 2023. PMID: 38043981
The first is for metachromatic leukodystrophy (MLD), a severe lysosomal storage disease, and provides high levels of the deficient enzyme; the second one is for cerebral forms of X-linked adrenoleukodystrophy (X-ALD), and works by halting the neuroinflammation proce …
The first is for metachromatic leukodystrophy (MLD), a severe lysosomal storage disease, and provides high levels of the deficient enzyme; t …
Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy.
Matsukawa T, Yamamoto T, Honda A, Toya T, Ishiura H, Mitsui J, Tanaka M, Hao A, Shinohara A, Ogura M, Kataoka K, Seo S, Kumano K, Hosoi M, Narukawa K, Yasunaga M, Maki H, Ichikawa M, Nannya Y, Imai Y, Takahashi T, Takahashi Y, Nagasako Y, Yasaka K, Mano KK, Matsukawa MK, Miyagawa T, Hamada M, Sakuishi K, Hayashi T, Iwata A, Terao Y, Shimizu J, Goto J, Mori H, Kunimatsu A, Aoki S, Hayashi S, Nakamura F, Arai S, Momma K, Ogata K, Yoshida T, Abe O, Inazawa J, Toda T, Kurokawa M, Tsuji S. Matsukawa T, et al. Brain Commun. 2020 Jan 14;2(1):fcz048. doi: 10.1093/braincomms/fcz048. eCollection 2020. Brain Commun. 2020. PMID: 32954314 Free PMC article.
Accumulated experience supports the efficacy of allogenic haematopoietic stem cell transplantation in arresting the progression of childhood-onset cerebral form of adrenoleukodystrophy in early stages. ...Indications for haematopoietic stem cell transp …
Accumulated experience supports the efficacy of allogenic haematopoietic stem cell transplantation in arresting the progression of childh …
23 results