FERNANDO SCAGLIA to Metabolism, Inborn Errors
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Metabolism, Inborn Errors.
Connection Strength
2.278
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Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes. Mol Genet Metab. 2025 Mar; 144(3):109009.
Score: 0.843
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Adult liver disorders caused by inborn errors of metabolism: review and update. Mol Genet Metab. 2015 Jan; 114(1):1-10.
Score: 0.417
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Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet. Pediatrics. 2007 Mar; 119(3):e773-7.
Score: 0.245
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Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. AJNR Am J Neuroradiol. 2005 Aug; 26(7):1675-80.
Score: 0.219
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Analysis of fragment size distribution of cell-free DNA: A potential non-invasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolism. Mol Genet Metab. 2019 05; 127(1):45-50.
Score: 0.141
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Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986.
Score: 0.140
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Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet. 2011 Apr 08; 88(4):402-21.
Score: 0.081
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Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. Clin Chem. 2008 Jul; 54(7):1141-8.
Score: 0.067
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Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. J Nutr. 2004 10; 134(10 Suppl):2775S-2782S; discussion 2796S-2797S.
Score: 0.052
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Psychiatric symptoms of inherited metabolic disease. J Inherit Metab Dis. 2000 Feb; 23(1):2-6.
Score: 0.037
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Primary and secondary alterations of neonatal carnitine metabolism. Semin Perinatol. 1999 Apr; 23(2):152-61.
Score: 0.035