FERNANDO SCAGLIA to Retrospective Studies
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Retrospective Studies.
Connection Strength
0.258
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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: 0.061
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Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation. Mol Genet Metab. 2024 08; 142(4):108513.
Score: 0.059
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Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency. Am J Med Genet A. 2026 Aug; 200(8):1814-1820.
Score: 0.017
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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: 0.016
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Causes of mortality in the congenital disorders of glycosylation. Mol Genet Metab. 2025 Mar; 144(3):109052.
Score: 0.015
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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004 Oct; 114(4):925-31.
Score: 0.015
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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Mol Genet Metab. 2024 08; 142(4):108509.
Score: 0.015
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Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Mol Genet Metab. 2004 Apr; 81 Suppl 1:S79-85.
Score: 0.014
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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genet Med. 2023 06; 25(6):100314.
Score: 0.013
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Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review. Mol Genet Metab. 2019 12; 128(4):431-443.
Score: 0.011
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.009
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Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 09; 122(1-2):60-66.
Score: 0.009
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Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis. Pediatr Blood Cancer. 2009 Jul; 53(1):100-2.
Score: 0.005