FERNANDO SCAGLIA to Neonatal Screening
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Neonatal Screening.
Connection Strength
0.163
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Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. Genet Med. 2010 Jan; 12(1):19-24.
Score: 0.066
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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: 0.051
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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: 0.028
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Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. Hum Mutat. 2010 Aug; 31(8):E1632-51.
Score: 0.017