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1987 1
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14 results

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Page 1
Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.
Fournier B, Saudubray JM, Benichou B, Lyonnet S, Munnich A, Clevers H, Poll-The BT. Fournier B, et al. J Clin Invest. 1994 Aug;94(2):526-31. doi: 10.1172/JCI117365. J Clin Invest. 1994. PMID: 8040306 Free PMC article.
Southern blot analyses were performed in two previously reported siblings with an isolated peroxisomal acyl-CoA oxidase deficiency (pseudoneonatal adrenoleukodystrophy). A deletion of at least 17 kb, starting down-stream from exon …
Southern blot analyses were performed in two previously reported siblings with an isolated peroxisomal acyl-CoA oxid …
The inflammatory response in acyl-CoA oxidase 1 deficiency (pseudoneonatal adrenoleukodystrophy).
El Hajj HI, Vluggens A, Andreoletti P, Ragot K, Mandard S, Kersten S, Waterham HR, Lizard G, Wanders RJ, Reddy JK, Cherkaoui-Malki M. El Hajj HI, et al. Endocrinology. 2012 Jun;153(6):2568-75. doi: 10.1210/en.2012-1137. Epub 2012 Apr 16. Endocrinology. 2012. PMID: 22508517 Free PMC article.
Among several peroxisomal neurodegenerative disorders, the pseudoneonatal adrenoleukodystrophy (P-NALD) is characterized by the acyl-coenzyme A oxidase 1 (ACOX1) deficiency, which leads to the accumulation of very-long-chain fatty acids (VLCFA) and inflammatory demy …
Among several peroxisomal neurodegenerative disorders, the pseudoneonatal adrenoleukodystrophy (P-NALD) is characterized by th …
Biochemical characterization of two functional human liver acyl-CoA oxidase isoforms 1a and 1b encoded by a single gene.
Oaxaca-Castillo D, Andreoletti P, Vluggens A, Yu S, van Veldhoven PP, Reddy JK, Cherkaoui-Malki M. Oaxaca-Castillo D, et al. Biochem Biophys Res Commun. 2007 Aug 24;360(2):314-9. doi: 10.1016/j.bbrc.2007.06.059. Epub 2007 Jun 21. Biochem Biophys Res Commun. 2007. PMID: 17603022 Free PMC article.
Human acyl-CoA oxidase 1 (ACOX1) is a rate-limiting enzyme in peroxisomal fatty acids beta-oxidation and its deficiency is associated with a lethal, autosomal recessive disease, called pseudoneonatal-adrenoleukodystrophy. Two mRNA variants, transcribed from a single …
Human acyl-CoA oxidase 1 (ACOX1) is a rate-limiting enzyme in peroxisomal fatty acids beta-oxidation and its deficiency is associated with a …
Peroxisomal acyl-CoA-oxidase deficiency: two new cases.
Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E. Carrozzo R, et al. Am J Med Genet A. 2008 Jul 1;146A(13):1676-81. doi: 10.1002/ajmg.a.32298. Am J Med Genet A. 2008. PMID: 18536048
Peroxisomal acyl CoA oxidase deficiency.
Suzuki Y, Iai M, Kamei A, Tanabe Y, Chida S, Yamaguchi S, Zhang Z, Takemoto Y, Shimozawa N, Kondo N. Suzuki Y, et al. J Pediatr. 2002 Jan;140(1):128-30. doi: 10.1067/mpd.2002.120511. J Pediatr. 2002. PMID: 11815777
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CW, IJlst L, Moser AB, Wanders RJ, Waterham HR. Ferdinandusse S, et al. Hum Mutat. 2007 Sep;28(9):904-12. doi: 10.1002/humu.20535. Hum Mutat. 2007. PMID: 17458872
For this reason, we report clinical information for a cohort of 22 patients with peroxisomal acyl-CoA oxidase deficiency and the results from biochemical and mutation analyses in fibroblasts of the patients. ...These results explain why this pat …
For this reason, we report clinical information for a cohort of 22 patients with peroxisomal acyl-CoA oxidase …
Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy.
Kurian MA, Ryan S, Besley GT, Wanders RJ, King MD. Kurian MA, et al. J Inherit Metab Dis. 2004;27(1):105-8. doi: 10.1023/b:boli.0000016687.88818.6d. J Inherit Metab Dis. 2004. PMID: 15065573
We report a rare case of straight-chain acyl-CoA oxidase deficiency (McKusick 264470) presenting with dysmorphism, neurodevelopmental regression and leukodystrophy....
We report a rare case of straight-chain acyl-CoA oxidase deficiency (McKusick 264470) presenting w …
Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.
Poll-The BT, Skjeldal OH, Stokke O, Poulos A, Demaugre F, Saudubray JM. Poll-The BT, et al. Hum Genet. 1989 Jan;81(2):175-81. doi: 10.1007/BF00293897. Hum Genet. 1989. PMID: 2463966
Activities in the different disorders were (percentage of control): classical Refsum's disease (5%), isolated peroxisomal acyl-CoA oxidase deficiency (75%), Zellweger syndrome (4%), neonatal adrenoleukodystrophy (5%), and rhizomelic chondrodyspl …
Activities in the different disorders were (percentage of control): classical Refsum's disease (5%), isolated peroxisomal acyl …
14 results