Connection

Edwin Naylor to Amino Acid Metabolism, Inborn Errors

This is a "connection" page, showing publications Edwin Naylor has written about Amino Acid Metabolism, Inborn Errors.
  1. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet. 2002; 3:17-45.
    View in: PubMed
    Score: 0.204
  2. 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.
    View in: PubMed
    Score: 0.172
  3. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem. 2003 Nov; 49(11):1797-817.
    View in: PubMed
    Score: 0.057
  4. Newborn screening for urea cycle disorders. Adv Exp Med Biol. 1982; 153:9-18.
    View in: PubMed
    Score: 0.050
  5. 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.
    View in: PubMed
    Score: 0.038
  6. 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.
    View in: PubMed
    Score: 0.028
  7. A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders. Pediatrics. 1982 Oct; 70(4):526-31.
    View in: PubMed
    Score: 0.013
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.