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Silvia Tortorelli

Mayo Clinic

75

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2123

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A New D-Galactose Treatment Monitoring Index for PGM1-CDG.

2021 Journal of Inherited Metabolic Disease
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The role of biomarkers for the follow up of infants with positive newborn screening results for Fabry disease

2021 Molecular Genetics and Metabolism
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Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians.

2021 The American Journal of the Medical Sciences
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Disorders of porphyrin metabolism

2021
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How does plasma oxysterols analysis compare to fibroblast filipin staining for diagnosis of Niemann-Pick C disease?

2021 Molecular Genetics and Metabolism
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The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

2021
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Improving the performance of newborn screening for mucopolysaccharidosis type II with second tier biomarker testing

2021 Molecular Genetics and Metabolism
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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.

2020 Genetics in Medicine
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A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders

2020 International Journal of Neonatal Screening
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The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism

2020 International Journal of Neonatal Screening
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