Edwin Naylor to Humans
This is a "connection" page, showing publications Edwin Naylor has written about Humans.
Connection Strength
0.218
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Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. Genet Med. 2015 May; 17(5):337-47.
Score: 0.018
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Maternal screening for hypothyroidism and thyroiditis using filter paper specimens. J Womens Health (Larchmt). 2013 Nov; 22(11):991-6.
Score: 0.017
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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: 0.013
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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: 0.010
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The use of filter paper-dried blood spots for thyroid-antibody screening in adults. J Lab Clin Med. 2004 Dec; 144(6):307-12.
Score: 0.009
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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: 0.009
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Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem. 2003 Nov; 49(11):1797-817.
Score: 0.009
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Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia. J Mol Diagn. 2003 Feb; 5(1):42-7.
Score: 0.008
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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: 0.008
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Assays for thyroid-stimulating hormone using dried blood spotted filter paper specimens to screen for hypothyroidism in older children and adults. J Med Screen. 2003; 10(1):5-10.
Score: 0.008
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The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet. 2002; 3:17-45.
Score: 0.008
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Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem. 2001; 47(7):1166-82.
Score: 0.007
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Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium. Acta Paediatr Suppl. 1999 Dec; 88(432):45-7.
Score: 0.006
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Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia. Clin Chim Acta. 2020 Feb; 501:216-221.
Score: 0.006
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Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin Chem. 1997 Nov; 43(11):2106-13.
Score: 0.006
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Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry. Am J Med Genet. 1997 Jan 31; 68(3):300-4.
Score: 0.005
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Twenty-year follow-up of newborn screening for patients with muscular dystrophy. Muscle Nerve. 2016 Apr; 53(4):570-8.
Score: 0.005
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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: 0.005
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Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem. 1995 Jan; 41(1):62-8.
Score: 0.005
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Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy. Muscle Nerve. 2014 Jun; 49(6):822-8.
Score: 0.004
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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: 0.004
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Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. Clin Chem. 2012 Jun; 58(6):1033-9.
Score: 0.004
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New technologies in newborn screening. Yale J Biol Med. 1991 Jan-Feb; 64(1):21-4.
Score: 0.003
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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: 0.003
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Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients. J Inherit Metab Dis. 2009 Feb; 32(1):10-21.
Score: 0.003
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Sepiapterin reductase in human amniotic and skin fibroblasts, chorionic villi, and various blood fractions. Clin Chim Acta. 1988 Jun 15; 174(3):271-82.
Score: 0.003
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Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles. Mol Genet Metab. 2007 Jul; 91(3):218-27.
Score: 0.003
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Recent developments in neonatal screening. Semin Perinatol. 1985 Apr; 9(3):232-49.
Score: 0.002
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A rapid screening test for Duchenne muscular dystrophy using dried blood specimens. Clin Chim Acta. 1984 Apr 27; 138(3):267-74.
Score: 0.002
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Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003 Nov 19; 290(19):2564-72.
Score: 0.002
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Neonatal blood carnitine concentrations: normative data by electrospray tandem mass spectometry. Pediatr Res. 2003 May; 53(5):823-9.
Score: 0.002
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Newborn screening for urea cycle disorders. Adv Exp Med Biol. 1982; 153:9-18.
Score: 0.002
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Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet. 2001 Jun; 68(6):1408-18.
Score: 0.002
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Enzymatic studies of urinary isomeric chondroitin sulfates from patients with mucopolysaccharidoses. The application of high performance liquid chromatography. Clin Chim Acta. 1980 May 21; 104(1):65-75.
Score: 0.002
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Optimization of an automated DNA purification protocol for neonatal screening. Arch Pathol Lab Med. 1999 Dec; 123(12):1154-60.
Score: 0.002
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DNA microarray technology for neonatal screening. Acta Paediatr Suppl. 1999 Dec; 88(432):61-4.
Score: 0.002
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Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol. 1999 Nov; 14 Suppl 1:S4-8.
Score: 0.002
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Immunoreactive trypsinogen levels in pediatric patients with intestinal failure awaiting intestinal transplantation. Clin Transplant. 1999 Oct; 13(5):395-9.
Score: 0.002
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Elevated immunoreactive trypsinogen levels in pediatric patients with short bowel syndrome. Transplant Proc. 1998 Sep; 30(6):2549-50.
Score: 0.001
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3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J Pediatr. 1998 Mar; 132(3 Pt 1):519-23.
Score: 0.001
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A simple screening test for arginase deficiency (hyperargininemia). J Lab Clin Med. 1977 Apr; 89(4):876-80.
Score: 0.001
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Molecular diagnosis of cystic fibrosis. Clin Lab Med. 1995 Dec; 15(4):877-98.
Score: 0.001
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Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. Am J Hum Genet. 1993 Sep; 53(3):768-74.
Score: 0.001
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A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders. Pediatrics. 1982 Oct; 70(4):526-31.
Score: 0.000
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Screening test for alpha 1-antitrypsin in dried-blood specimens. Clin Chem. 1982 Apr; 28(4 Pt 1):615-7.
Score: 0.000
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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: 0.000
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A simple screening test for reduced glutathione in filter paper spots of blood. J Pediatr. 1981 Feb; 98(2):265-7.
Score: 0.000
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Fluorometric micromethod for determination of arginase activity in dried blood spots on filter paper. Clin Chem. 1980 Jul; 26(8):1198-200.
Score: 0.000
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Ultramicromethod for estimation of total glutathione in dried blood spots on filter paper. Anal Biochem. 1980 May 01; 104(1):70-4.
Score: 0.000
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Micromethod for estimating adenosine deaminase activity in dried blood spots on filter paper. Clin Chem. 1978 Apr; 24(4):591-4.
Score: 0.000