Silvia Tortorelli
4PUBLICATIONS
34CO-AUTHORS
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Publications (4)
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|Nov 12, 2025
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy.Jordan Elliott Bontrager, Amy L White, Karlla W Brigatti
|Sep 26, 2025
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches.Matthew J Schultz, Patricia L Hall, Gisele Bentz Pino
|Oct 30, 2020
The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California.Hao Tang, Jamie Matteson, Piero Rinaldo
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Frequent Collaborators
3 joint publications
Dietrich Matern
2 joint publications
Patricia L Hall
2 joint publications
Amy L White
1 joint publications
Jamie Matteson
1 joint publications
Robert Currier
1 joint publications
Stanley Sciortino
1 joint publications
Jordan Elliott Bontrager
1 joint publications
Karlla W Brigatti
1 joint publications
William Laxen
1 joint publications
Perry R Loken
