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Page 1
Clinical profile of adrenoleukodysrophy.
Acharya SV, Gopal RA, Bandgar TR, Joshi SR, Menon PS, Shah NS. Acharya SV, et al. Indian J Pediatr. 2009 Oct;76(10):1045-7. doi: 10.1007/s12098-009-0220-0. Epub 2009 Nov 12. Indian J Pediatr. 2009. PMID: 19907937
X-linked Adrenoleukodystrophy (ALD) is the most common of the peroxisomal disorder and is associated with functional defect of the very long chain fatty acid (VLCFA) oxidation leading to the accumulation of VLCFA in the white matter and adrenal cortex. ...
X-linked Adrenoleukodystrophy (ALD) is the most common of the peroxisomal disorder and is associated with functional defect of …
Zellweger syndrome knockout mouse models challenge putative peroxisomal beta-oxidation involvement in docosahexaenoic acid (22:6n-3) biosynthesis.
Infante JP, Huszagh VA. Infante JP, et al. Mol Genet Metab. 2001 Jan;72(1):1-7. doi: 10.1006/mgme.2000.3101. Mol Genet Metab. 2001. PMID: 11161822 Review.
The putative involvement of peroxisomal beta-oxidation in the biosynthetic pathway of docosahexaenoic acid (22:6n-3, DHA) synthesis is critically reviewed in light of experiments with two recently developed knockout mouse models for Zellweger syndrome, a peroxisomal dis …
The putative involvement of peroxisomal beta-oxidation in the biosynthetic pathway of docosahexaenoic acid (22:6n-3, DHA) synthesis is criti …
The effect of Lorenzo's oil on oxidative stress in X-linked adrenoleukodystrophy.
Deon M, Wajner M, Sirtori LR, Fitarelli D, Coelho DM, Sitta A, Barschak AG, Ferreira GC, Haeser A, Giugliani R, Vargas CR. Deon M, et al. J Neurol Sci. 2006 Sep 25;247(2):157-64. doi: 10.1016/j.jns.2006.04.004. Epub 2006 Jun 5. J Neurol Sci. 2006. PMID: 16750542 Clinical Trial.
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder biochemically characterized by the accumulation of very long chain fatty acids (VLCFA), particularly hexacosanoic acid (C(26:0)) and tetracosanoic acid (C(24:0)), in tissues and biological fluids. ...
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder biochemically characterized by the accumulation of very long c …
Anesthesia in a child with suspected peroxisomal disorder.
Englbrecht JS, Maas M. Englbrecht JS, et al. Anaesthesist. 2017 Dec;66(12):944-947. doi: 10.1007/s00101-017-0379-0. Epub 2017 Nov 8. Anaesthesist. 2017. PMID: 29119207 English.
We present the case of an 8-year-old female child with suspected peroxisomal disorder requiring general anesthesia for adenotomy, paracentesis and brainstem-evoked response audiometry. ...Anesthesiologists should consider characteristics of their particular patient' …
We present the case of an 8-year-old female child with suspected peroxisomal disorder requiring general anesthesia for adenoto …
Intrathecal baclofen treatment an option in X-linked adrenoleukodystrophy.
Hjartarson HT, Ehrstedt C, Tedroff K. Hjartarson HT, et al. Eur J Paediatr Neurol. 2018 Jan;22(1):178-181. doi: 10.1016/j.ejpn.2017.09.003. Epub 2017 Sep 14. Eur J Paediatr Neurol. 2018. PMID: 28964670
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a genetic peroxisomal disorder associated with tissue accumulation of very long chain fatty acids (VLCFAs). ...Both patients tolerated ITB surgery without complications and the positive clinical effects of …
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a genetic peroxisomal disorder associated with tissue accumulation of ver …
Nervonic Acid Attenuates Accumulation of Very Long-Chain Fatty Acids and is a Potential Therapy for Adrenoleukodystrophy.
Terluk MR, Tieu J, Sahasrabudhe SA, Moser A, Watkins PA, Raymond GV, Kartha RV. Terluk MR, et al. Neurotherapeutics. 2022 Apr;19(3):1007-1017. doi: 10.1007/s13311-022-01226-7. Epub 2022 Apr 4. Neurotherapeutics. 2022. PMID: 35378685 Free PMC article.
Adrenoleukodystrophy (ALD) is an X-linked inherited peroxisomal disorder due to mutations in the ALD protein and characterized by accumulation of very long-chain fatty acids (VLCFA), specifically hexacosanoic acid (C26:0). ...
Adrenoleukodystrophy (ALD) is an X-linked inherited peroxisomal disorder due to mutations in the ALD protein and characterized …
Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy.
Schönberger S, Roerig P, Schneider DT, Reifenberger G, Göbel U, Gärtner J. Schönberger S, et al. Arch Neurol. 2007 May;64(5):651-7. doi: 10.1001/archneur.64.5.noc60105. Epub 2007 Mar 12. Arch Neurol. 2007. PMID: 17353371 Clinical Trial.
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder. It is caused by impaired function of ALD protein that results in accumulation of very long-chain fatty acids in tissues and body fluids. ...
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder. It is caused by impaired …
A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy.
Ahmed MA, Kartha RV, Brundage RC, Cloyd J, Basu C, Carlin BP, Jones RO, Moser AB, Fatemi A, Raymond GV. Ahmed MA, et al. Br J Clin Pharmacol. 2016 Jun;81(6):1058-66. doi: 10.1111/bcp.12897. Epub 2016 Apr 3. Br J Clin Pharmacol. 2016. PMID: 26836218 Free PMC article. Clinical Trial.
AIMS: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder, most commonly affecting boys, associated with increased very long chain fatty acids (C26:0) in all tissues, causing cerebral demyelination and adrenocortical insufficiency. ...METHODS: Non-linear …
AIMS: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder, most commonly affecting boys, associated with increased …
20 results