Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jason S Eckerman"'
Autor:
Joseph J. Orsini, Jason S Eckerman, Silvia Tortorelli, Dimitar Gavrilov, John J. Alexander, Dietrich Matern, Patricia L. Hall, Jeremy Hart, Colleen F. Stevens, Kimiyo Raymond, Devin Oglesbee, Piero Rinaldo
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(8)
To describe a novel biochemical marker in dried blood spots suitable to improve the specificity of newborn screening for Pompe disease. The new marker is a ratio calculated between the creatine/creatinine (Cre/Crn) ratio as the numerator and the acti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d01ec5debd68bb79163cee737ecda961
https://pubmed.ncbi.nlm.nih.gov/29095812
https://pubmed.ncbi.nlm.nih.gov/29095812
Autor:
Piero Rinaldo, Lars Mørkrid, Kimiyo Raymond, Lea Mott, Jason S Eckerman, Jean M. Lacey, Jeremy Hart, Stephanie L. Nett, Melissa M Minter Baerg, Silvia Tortorelli, Devin Oglesbee, Coleman T. Turgeon, Stephanie D Stoway, Dietrich Matern, Dawn Peck, Dimitar Gavrilov
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(8)
The implementation of newborn screening for lysosomal disorders has uncovered overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up testing of false-positive cases. We report an informatics solution proven to min
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41e7f04deea201ccebd6dd1a4e752f1f
https://pubmed.ncbi.nlm.nih.gov/29120458
https://pubmed.ncbi.nlm.nih.gov/29120458