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Year Number of Results
1987 1
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2001 1
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2010 3
2011 1
2012 1
2013 1
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2018 3
2019 1
2020 1
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26 results

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Page 1
X-linked adrenoleukodystrophy: pathogenesis and treatment.
Engelen M, Kemp S, Poll-The BT. Engelen M, et al. Curr Neurol Neurosci Rep. 2014 Oct;14(10):486. doi: 10.1007/s11910-014-0486-0. Curr Neurol Neurosci Rep. 2014. PMID: 25115486 Review.
X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum. All patients have mutations in the ABCD1 gene and accumulate very long chain fatty acids in all tissues. Virtually …
X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum. All patien …
Treatment with recombinant Sirt1 rewires the cardiac lipidome and rescues diabetes-related metabolic cardiomyopathy.
Costantino S, Mengozzi A, Velagapudi S, Mohammed SA, Gorica E, Akhmedov A, Mongelli A, Pugliese NR, Masi S, Virdis A, Hülsmeier A, Matter CM, Hornemann T, Melina G, Ruschitzka F, Luscher TF, Paneni F. Costantino S, et al. Cardiovasc Diabetol. 2023 Nov 13;22(1):312. doi: 10.1186/s12933-023-02057-2. Cardiovasc Diabetol. 2023. PMID: 37957697 Free PMC article.
BACKGROUND: Metabolic cardiomyopathy (MCM), characterized by intramyocardial lipid accumulation, drives the progression to heart failure with preserved ejection fraction (HFpEF). ...In left ventricular samples from rSirt1-treated db/db mice, rSirt1 modulated the cardiac li …
BACKGROUND: Metabolic cardiomyopathy (MCM), characterized by intramyocardial lipid accumulation, drives the progression to heart fail …
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. It results in accumulation of very long chain fatty acids in tissues a …
X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder associated with mutations of the ABCD1 gene that encodes a …
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.
Lee S, Clinard K, Young SP, Rehder CW, Fan Z, Calikoglu AS, Bali DS, Bailey DB Jr, Gehtland LM, Millington DS, Patel HS, Beckloff SE, Zimmerman SJ, Powell CM, Taylor JL. Lee S, et al. JAMA Netw Open. 2020 Jan 3;3(1):e1920356. doi: 10.1001/jamanetworkopen.2019.20356. JAMA Netw Open. 2020. PMID: 32003821 Free PMC article.
IMPORTANCE: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal genetic disorder in which an accumulation of very long-chain fatty acids leads to inflammatory demyelination in the central nervous system and to adrenal cortex atrophy. ...EXPOS …
IMPORTANCE: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal genetic disorder in which an accumulation of very long-c …
Role of carnitine and its derivatives in the development and management of type 2 diabetes.
Bene J, Hadzsiev K, Melegh B. Bene J, et al. Nutr Diabetes. 2018 Mar 7;8(1):8. doi: 10.1038/s41387-018-0017-1. Nutr Diabetes. 2018. PMID: 29549241 Free PMC article. Review.
Type 2 diabetes is a highly prevalent chronic metabolic disorder characterized by hyperglycemia and associated with several complications such as retinopathy, hyperlipidemia and polyneuropathy. The dysregulated fatty acid metabolism along with tissue lipid accumu …
Type 2 diabetes is a highly prevalent chronic metabolic disorder characterized by hyperglycemia and associated with several complications su …
X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.
Shimozawa N, Honda A, Kajiwara N, Kozawa S, Nagase T, Takemoto Y, Suzuki Y. Shimozawa N, et al. J Hum Genet. 2011 Feb;56(2):106-9. doi: 10.1038/jhg.2010.139. Epub 2010 Nov 11. J Hum Genet. 2011. PMID: 21068741 Review.
X-linked adrenoleukodystrophy (ALD) is an intractable neurodegenerative disease associated with the accumulation of very long-chain saturated fatty acids (VLCFA) in tissues and body fluids. ...About 12% of the individuals with ALD had de novo mu …
X-linked adrenoleukodystrophy (ALD) is an intractable neurodegenerative disease associated with the accumulation of very long- …
Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models.
Tucci S. Tucci S. J Inherit Metab Dis. 2017 May;40(3):317-323. doi: 10.1007/s10545-017-0016-8. Epub 2017 Feb 28. J Inherit Metab Dis. 2017. PMID: 28247148 Review.
Very-long-chain-acyl-CoA-dehydrogenase deficiency is the most common disorder of mitochondrial long-chain fatty acid (LCFA) oxidation, with an incidence of 1:50,000-1:100,000 in newborns. ...Besides the sex-specific response to MCT supple …
Very-long-chain-acyl-CoA-dehydrogenase deficiency is the most common disorder of mitochondrial long-chain fat …
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
Lindner M, Hoffmann GF, Matern D. Lindner M, et al. J Inherit Metab Dis. 2010 Oct;33(5):521-6. doi: 10.1007/s10545-010-9076-8. Epub 2010 Apr 7. J Inherit Metab Dis. 2010. PMID: 20373143 Review.
Experience with new-born screening (NBS) for disorders of fatty-acid oxidation (FAOD) is now becoming available from an increasing number of programs worldwide. ...Consequently, a significant prevalence and evidence for a clear benefit of NBS is proven for medium- …
Experience with new-born screening (NBS) for disorders of fatty-acid oxidation (FAOD) is now becoming available from an increa …
Current issues regarding treatment of mitochondrial fatty acid oxidation disorders.
Spiekerkoetter U, Bastin J, Gillingham M, Morris A, Wijburg F, Wilcken B. Spiekerkoetter U, et al. J Inherit Metab Dis. 2010 Oct;33(5):555-61. doi: 10.1007/s10545-010-9188-1. Epub 2010 Sep 10. J Inherit Metab Dis. 2010. PMID: 20830526 Review.
Treatment recommendations in mitochondrial fatty acid oxidation (FAO) defects are diverse. With implementation of newborn screening and identification of asymptomatic patients, it is necessary to define whom to treat and how strictly. We here discuss critical questi …
Treatment recommendations in mitochondrial fatty acid oxidation (FAO) defects are diverse. With implementation of newborn scre …
Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment.
Schutgens RB, Wanders RJ, Heymans HS, Schram AW, Tager JM, Schrakamp G, van den Bosch H. Schutgens RB, et al. J Inherit Metab Dis. 1987;10 Suppl 1:33-45. doi: 10.1007/BF01812845. J Inherit Metab Dis. 1987. PMID: 3119940 Review.
In patients with cerebro-hepato-renal (Zellweger) syndrome, the absence of peroxisomes results in an impairment of metabolic processes in which peroxisomes are normally involved. These include the catabolism of very long chain (greater than C22) fatty acid …
In patients with cerebro-hepato-renal (Zellweger) syndrome, the absence of peroxisomes results in an impairment of metabolic processes in wh …
26 results