A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders

Autor: Amber McDonald, Devin Oglesbee, Ramanath Majumdar, Charles A. Kroll, Fred Lorey, Grazia Isaya, Hao Tang, Piero Rinaldo, Dimitar Gavrilov, Karen A. Sanders, Kimiyo Raymond, Jean M. Lacey, Silvia Tortorelli, Robert J. Currier, Dietrich Matern, Coleman T. Turgeon, Justin N. Tucker, John J. Hopwood

Publikováno v: International Journal of Neonatal Screening, Vol 6, Iss 44, p 44 (2020)
International journal of neonatal screening
International Journal of Neonatal Screening
Volume 6
Issue 2

Newborn screening for one or more lysosomal disorders has been implemented in several US states, Japan and Taiwan by multiplexed enzyme assays using either tandem mass spectrometry or digital microfluidics. Another multiplex assay making use of immun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ec07cb5893f268d80848415956ce220
https://www.mdpi.com/2409-515X/6/2/44

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.

Autor: Sanders KA; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Gavrilov DK; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Oglesbee D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Raymond KM; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Tortorelli S; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Hopwood JJ; Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute, Adelaide 5000, Australia., Lorey F; Genetic Disease Screening Program, California Department of Public Health, Richmond, CA 94804, USA., Majumdar R; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Kroll CA; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., McDonald AM; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Lacey JM; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Turgeon CT; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Tucker JN; Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute, Adelaide 5000, Australia., Tang H; Genetic Disease Screening Program, California Department of Public Health, Richmond, CA 94804, USA., Currier R; Genetic Disease Screening Program, California Department of Public Health, Richmond, CA 94804, USA.; Department of Pediatrics, University of California, San Francisco, CA 94143, USA., Isaya G; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA., Rinaldo P; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA., Matern D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA.

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2020 Jun; Vol. 6 (2). Date of Electronic Publication: 2020 May 30.