FERNANDO SCAGLIA to Congenital Disorders of Glycosylation
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Congenital Disorders of Glycosylation.
Connection Strength
2.800
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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 Aug; 142(4):108513.
Score: 0.868
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Expansion of the clinical phenotype of GALE deficiency. Am J Med Genet A. 2021 10; 185(10):3118-3121.
Score: 0.706
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Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology. J Pediatr. 2005 Dec; 147(6):847-50.
Score: 0.240
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Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes. Mol Genet Metab. 2025 May; 145(1):109087.
Score: 0.229
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Causes of mortality in the congenital disorders of glycosylation. Mol Genet Metab. 2025 Mar; 144(3):109052.
Score: 0.227
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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 Aug; 142(4):108509.
Score: 0.217
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Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. Genet Med. 2020 06; 22(6):1102-1107.
Score: 0.161
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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925.
Score: 0.152