FERNANDO SCAGLIA to Fatal Outcome
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Fatal Outcome.
Connection Strength
0.459
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TPI deficiency: A case report and review of the literature. Mol Genet Metab. 2025 Sep-Oct; 146(1-2):109227.
Score: 0.221
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Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. Mol Genet Metab. 2011 Jul; 103(3):262-7.
Score: 0.081
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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: 0.056
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MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. J Med Genet. 2004 Feb; 41(2):125-9.
Score: 0.050
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Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 05; 39(5):666-675.
Score: 0.033
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Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A. 2009 Aug; 149A(8):1661-77.
Score: 0.018