Tortorelli, Silvia

Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004–2007)

Matern, D., Tortorelli, S., Oglesbee, D., Gavrilov, D., & Rinaldo, P. (2007) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 217

Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots

Turgeon, C., Magera, M. J., Allard, P., Tortorelli, S., Gavrilov, D., Oglesbee, D., Raymond, K., Rinaldo, P., & Matern, D. (2008) · Clinical Chemistry

Metabolism and Genetic DisordersMetabolomics and Mass Spectrometry Studies

Cited by 145

Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings

HUBBARD, W., MOSER, A., TORTORELLI, S., LIU, A., JONES, D., & MOSER, H. (2006) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 108

Newborn Screening for X-Linked Adrenoleukodystrophy

Moser, A., Jones, R., Hubbard, W., Tortorelli, S., Orsini, J., Caggana, M., Vogel, B., & Raymond, G. (2016) · International Journal of Neonatal Screening

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 106

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

Turgeon, C. T., Moser, A. B., Mørkrid, L., Magera, M. J., Gavrilov, D. K., Oglesbee, D., Raymond, K., Rinaldo, P., Matern, D., & Tortorelli, S. (2015) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 60

Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith–Lemli–Opitz Syndrome

Hall, P., Michels, V., Gavrilov, D., Matern, D., Oglesbee, D., Raymond, K., Rinaldo, P., & Tortorelli, S. (2013) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 45

Newborn screening for lysosomal storage disorders and other neuronopathic conditions

Matern, D., Oglesbee, D., & Tortorelli, S. (2013) · Developmental Disabilities Research Reviews

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 41