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Silvia Tortorelli

mayo clinic

38H-index
139Paper Count
3.8KCitation Count
Published Papers 87
Publication Date
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Analysis of purines and pyrimidines across biospecimens: influence of storage temperature and duration
errScientific Reports
IF3.9
err2026-05-30
err0
errOAAI
errRachel Wurth; Coleman Turgeon; Jean Lacey; Zinandré Stander; Dimitar Gavrilov; Patricia L. Hall; Dietrich Matern; Matthew Schultz; Silvia Tortorelli; Devin Oglesbee
errShare
errSave
Systemic dual-gene therapy reverses biochemical intoxication in the central metabolic compartment of Bckdha-/- mice
errMolecular Therapy
IF12
err2026-05-13
err0
errOAAI
errJiaming Wang; Coleman T. Turgeon; Perry R. Loken; Heather Gray-Edwards; Guangping Gao; Silvia Tortorelli; Dan Wang; Kevin A. Strauss
errShare
errSave
COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I
errInternational Journal of Neonatal Screening
IF4
err2026-04-17
err0
errOAAI
errZinandré Stander; Amy L. White; Matthew Lynch; David Coman; Justin Rosati; Diana Bailey; Jessica Johnson; Bo Hoon Lee; ChinTo Fong; Joseph Orsini; Matthew J. Schultz; Devin Oglesbee; Dimitar Gavrilov; Dietrich Matern; Patricia L. Hall; Silvia Tortorelli
errShare
errSave
Cerebrospinal fluid D-2-hydroxyglutarate for IDH-mutant glioma monitoring
errNeuro-Oncology Advances
IF4.1
err2026-03-09
err0
errOAAI
errAuthors: Cecile Riviere-Cazaux; Yuta Suzuki; Zain Kizilbash; William J Laxen; Jean M Lacey; Tamara M Wipplinger; Arthur E Warrington; Michael B Keough; Lionel Fotso Kamga; Katherine M Andersen; Nicholas Canaday; Matthew L Kosel; Silvia Tortorelli; Ugur Sener; Michael W Ruff; Paul A Decker; Jeanette E Eckel-Passow; Sani H Kizilbash; Timothy J Kaufmann; Terry C Burns
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errSave
LONGITUDINAL CEREBROSPINAL FLUID D-2-HYDROXYGLUTARATE FOR DISEASE MONITORING IN PATIENTS WITH IDH-MUTANT GLIOMAS
errNEURO-ONCOLOGY
IF13.4
err2025-11-01
err0
PREAI
errRiviere-Cazaux, Cecile; Suzuki, Yuta; Kizilbash, Zain; Laxen, William; Lacey, Jean; Wipplinger, Tamara; Warrington, Arthur; Keough, Michael; Kamga, Lionel Fotso; Andersen, Katherine; Canaday, Nicholas; Kosel, Matthew; Tortorelli, Silvia; Sener, Ugur; Ruff, Michael; Decker, Paul; Eckel-Passow, Jeanette; Kizilbash, Sani; Kaufmann, Timothy; Burns, Terry
errShare
errSave
Clinical utility of untargeted urine oligosaccharide screening
errMolecular Genetics and Metabolism
IF3.5
err2025-10-24
err0
PREAI
errGisele Bentz Pino; Marie A. Quade; Matthew J. Schultz; Amy L. White; Dawn S. Peck; April L. Studinski Jones; Dimitar K. Gavrilov; Devin Oglesbee; Silvia Tortorelli; Dietrich Matern; Patricia L. Hall
errShare
errSave
Reduction of False-Positive Results With Biochemical Second-Tier Testing for Newborn Screening of Pompe Disease
errGenetics in Medicine
IF6.2
err2025-10-10
err0
PREAI
errIbrahim T. Khoja; Dawn S. Peck; Dimitar K. Gavrilov; Molly A. McPheron; Devin Oglesbee; Gisele Bentz Pino; Katie L. Sapp; Matthew J. Schultz; April L. Studinski Jones; Amy L. White; Silvia Tortorelli; Dietrich Matern; Patricia L. Hall
errShare
errSave
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches
errJournal of Inherited Metabolic Disease
IF3.8
err2025-09-25
err0
PREAI
errMatthew J. Schultz; Patricia L. Hall; Gisele Bentz Pino; Amy L. White; Dawn S. Peck; April L. Studinski; Jenny M. Thies; Dimitar Gavrilov; Devin Oglesbee; Silvia Tortorelli; Dietrich Matern
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errSave
Two-tiered newborn screening for Infantile Krabbe disease allows for timely treatment initiation and avoids false positive results
errGenetics in Medicine
IF6.2
err2025-08-29
err0
PREAI
errPatricia L. Hall; Amy L. White; Dawn Peck; Gisele Pino; April Studinski; Dimitar Gavrilov; Devin Oglesbee; Matthew J. Schultz; Silvia Tortorelli; Dietrich Matern
errShare
errSave
The impact of newborn screening on the age of patients referred for testing and with confirmed diagnoses of Pompe disease and mucopolysaccharidosis type I
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errKhoja, Ibrahim T.; Peck, Dawn; White, Amy; Studinski, April; Oglesbee, Devin; Matern, Dietrich; Gavrilov, Dimitar; Schultz, Matthew; Tortorelli, Silvia; Hall, Patricia
errShare
errSave
HGSNAT- A 'chip-off-the-old-block', or a double entendre with an unusual clinical course?
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errStander, Zinandre; Darr, Kahlen; White, Amy; Tortorelli, Silvia; Scruggs, Brittni; Conboy, Erin; Schimmenti, Lisa
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errSave
Characterizing and validating the small molecule signature of Krabbe disease plasma using untargeted metabolomics analysis
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errWurth, Rachel; Turgeon, Coleman; Stander, Zinandre; Matern, Dietrich; White, Amy L.; Gavrilov, Dimitar; Hall, Patricia L.; Schult, Matthew; Tortorelli, Silvia; Oglesbee, Devin
errShare
errSave
Sensitivity of transferrin isoform analysis for PMM2-CDG
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-09-01
err2
PREAI
errHall, Patrica L.; Liedke, Kris; Turgeon, Coleman; White, Amy; Pino, Gesele Bentz; Peck, Dawn; Studinski, April; Gavrilov, Dimitar; Tortorelli, Silvia; Oglesbee, Devin; Matern, Dietrich; Raymond, Kimiyo; Schultz, Matthew J.
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errSave
SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-05-01
err2
PREAI
errSanders, Karen; Peck, Dawn; Pino, Gisele Bentz; Jones, April Studinski; White, Amy; Gavrilov, Dimitar; Matern, Dietrich; Oglesbee, Devin; Schultz, Matthew; Tortorelli, Silvia; Hall, Patricia L.
errShare
errSave
Porphyria diagnostic yield and testing experience: Where biochemical and molecular testing intersect
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errSelner, Elizabeth; Peck, Dawn; Schultz, Matthew; Oglesbee, Devin; Salsbery, Kyle; Hall, Patricia; Gavrilov, Dimitar; Tortorelli, Silvia
errShare
errSave
The G78D variant in IDUA - a potential hypomorphic variant not associated with severe MPS I
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errPeck, Dawn; Hall, Patricia; Hamm, J. Austin; Gadea, Randi; Heese, Bryce; Lasio, Maria Laura Duque; Manwaring, Linda; Pino, Gisele; Studinski, April; White, Amy; Gavrilov, Dimitar; Matern, Dietrich; Oglesbee, Devin; Schultz, Matthew; Tortorelli, Silvia
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errSave
In support of transferrin testing for PMM2-CDG: The experience at a reference laboratory
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errGerald, Dayebgadoh; Matern, Dietrich; Oglesbee, Devin; Schultz, Matthew; Hall, Patricia; Gavrilov, Dimitar; Tortorelli, Silvia; White, Amy; Peck, Dawn; Studinski, April; Pino, Gisele; Turgeon, Coleman; Liedtke; Liedtke, Kris L.; Kris, L.
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errSave
The clinical challenge of new variants encountered in newborn screening: The example of ASN290ASP in GAA
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errTortorelli, Silvia; Smith, Wendy; Pillai, Nishitha; Grant, Christina Lee; Kuperman, KeriAnn; Fabie, Noelle; Wright, Erica; Sapp, Katie; Baker, Craig; Keller, Alyssa; Peck, Dawn
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errSave
2-HYDROXYGLUTARATE IN CEREBROSPINAL FLUID AS A MONITORING BIOMARKER FOR IDH-MUTANT GLIOMAS
errNEURO-ONCOLOGY
IF13.4
err2023-09-08
err0
PREAI
errRiviere-Cazaux, C.; Lacey, J.; Carlstrom, L.; Laxen, W.; Munoz-Casabella, A.; Hoplin, M.; Ikram, S.; bin Zubair, A.; Andersen, K.; Warrington, A.; Decker, P.; Kaufmann, T.; Campian, J.; Eckel-Passow, J.; Kizilbash, S.; Tortorelli, S.; Burns, T.
errShare
errSave
Cerebrospinal fluid 2-hydroxyglutarate as a monitoring biomarker for IDH-mutant gliomas
errNEURO-ONCOLOGY ADVANCES
IF4.1
err2023-05-11
err8
errOAAI
errRiviere-Cazaux, Cecile; Lacey, Jean M.; Carlstrom, Lucas P.; Laxen, William J.; Munoz-Casabella, Amanda; Hoplin, Matthew D.; Ikram, Samar; Bin Zubair, Abdullah; Andersen, Katherine M.; Warrington, Arthur E.; Decker, Paul A.; Kaufmann, Timothy J.; Campian, Jian L.; Eckel-Passow, Jeanette E.; Kizilbash, Sani H.; Tortorelli, Silvia; Burns, Terry C.
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errSave

Research Directions

The data has not been retrieved yet.
Co-authors
Cooperation Journals
L
Lewis R. Roberts
H-index: 128 · Papers: 1.1K
M
Michael H. Gelb
H-index: 105 · Papers: 828
M
Michael Torbenson
H-index: 100 · Papers: 459
D
David M. Hougaard
H-index: 99 · Papers: 609
M
Markus Grompe
H-index: 96 · Papers: 404
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