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Developmental Disabilities Research Reviews|June 26, 2013
Newborn screening for lysosomal storage disorders and other neuronopathic conditionsDietrich Matern, Devin Oglesbee, Silvia Tortorelli
Current Opinion in Pediatrics|July 27, 2004
Recent developments and new applications of tandem mass spectrometry in newborn screeningPiero Rinaldo, Silvia Tortorelli, Dietrich Matern
Mental Retardation and Developmental Disabilities Research Reviews|December 22, 2006
Making the case for objective performance metrics in newborn screening by tandem mass spectrometryPiero Rinaldo, Saba Zafari, Silvia Tortorelli, et al.
Nestle Nutrition Workshop Series. Paediatric Programme|July 16, 2008
Newborn screening of metabolic disorders: recent progress and future developmentsPiero Rinaldo, James S Lim, Silvia Tortorelli, et al.
International Journal of Neonatal Screening|October 30, 2020
The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in CaliforniaHao Tang, Jamie Matteson, Piero Rinaldo, et al.
Seminars in Perinatology|April 21, 2015
Newborn screening for lysosomal storage disordersDietrich Matern, Dimitar Gavrilov, Devin Oglesbee, et al.
Molecular Genetics and Metabolism|July 11, 2006
Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findingsWalter C Hubbard, Ann B Moser, Silvia Tortorelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 6, 2017
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and GenomicsJ Daniel Sharer, Olaf Bodamer, Nicola Longo, et al.
Clinical Chemistry|October 25, 2018
Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular AtrophyNoemi Vidal-Folch, Dimitar Gavrilov, Kimiyo Raymond, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 12, 2019
Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Irene De Biase, Silvia Tortorelli, Lisa Kratz, et al.
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