Edwin Naylor to Mutation
This is a "connection" page, showing publications Edwin Naylor has written about Mutation.
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0.616
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A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin. J Hum Genet. 2009 Jun; 54(6):335-9.
Score: 0.221
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A high throughput beta-globin genotyping method by multiplexed melting temperature analysis. Mol Genet Metab. 2004 Mar; 81(3):237-43.
Score: 0.154
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Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. Mol Genet Metab. 2003 Feb; 78(2):100-7.
Score: 0.143
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Alternative DNA-based newborn screening for glucose-6-phosphate dehydrogenase deficiency. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):212-9.
Score: 0.042
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Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res. 1995 May; 37(5):675-8.
Score: 0.021
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Neonatal screening for cystic fibrosis: addition of molecular diagnostics to increase specificity. Biochem Med Metab Biol. 1993 Apr; 49(2):200-11.
Score: 0.018
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Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab. 2010 Sep; 101(1):33-9.
Score: 0.015
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Neonatal urine screening for metabolic disease with auxotrophic strains of Bacillus subtilis. Clin Chim Acta. 1982 Mar 12; 119(3):345-9.
Score: 0.002