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A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Sanders KA, Gavrilov DK, Oglesbee D, Raymond KM, Tortorelli S, Hopwood JJ, Lorey F, Majumdar R, Kroll CA, McDonald AM, Lacey JM, Turgeon CT, Tucker JN, Tang H, Currier R, Isaya G, Rinaldo P, Matern D. Sanders KA, et al. Among authors: matern d. Int J Neonatal Screen. 2020 Jun;6(2):44. doi: 10.3390/ijns6020044. Epub 2020 May 30. Int J Neonatal Screen. 2020. PMID: 32802993 Free PMC article.
Fatty acid oxidation disorders.
Rinaldo P, Matern D, Bennett MJ. Rinaldo P, et al. Among authors: matern d. Annu Rev Physiol. 2002;64:477-502. doi: 10.1146/annurev.physiol.64.082201.154705. Annu Rev Physiol. 2002. PMID: 11826276 Review.
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D. Ensenauer R, et al. Among authors: matern d. Am J Hum Genet. 2004 Dec;75(6):1136-42. doi: 10.1086/426318. Epub 2004 Oct 14. Am J Hum Genet. 2004. PMID: 15486829 Free PMC article.
180 results