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Tortorelli, Silvia
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1

In support of transferrin testing for PMM2-CDG: The experie..:

Gerald, Dayebgadoh ; Matern, Dietrich ; Oglesbee, Devin...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108283 , 2024
Link: https://doi.org/10.1016/..
 
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2

The clinical challenge of new variants encountered in newbo..:

Tortorelli, Silvia ; Smith, Wendy ; Pillai, Nishitha...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108299 , 2024
Link: https://doi.org/10.1016/..
 
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3

P004: Urine polyols for diagnosis of sorbitol dehydrogenase..:

White, Amy ; Bontrager, Jordan ; Laxen, William...
Genetics in Medicine Open.  2 (2024)  - p. 100881 , 2024
Link: https://doi.org/10.1016/..
 
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4

Pre-analytic decrease of phenylalanine in plasma of patient..:

Turgeon, Coleman ; Casas, Kari ; Flanagan, Ryan...
Molecular Genetics and Metabolism Reports.  40 (2024)  - p. 101110 , 2024
Link: https://doi.org/10.1016/..
 
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5

SLC6A8 creatine transporter deficiency can be detected by p..:

Sanders, Karen ; Peck, Dawn ; Bentz Pino, Gisele...
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108455 , 2024
Link: https://doi.org/10.1016/..
 
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6

P027: Urine organic acid analysis as a potential screening ..:

Stander, Zinandre ; Laxen, William ; Loken, Perry...
Genetics in Medicine Open.  2 (2024)  - p. 100904 , 2024
Link: https://doi.org/10.1016/..
 
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7

The G78D variant in IDUA – a potential hypomorphic variant ..:

Peck, Dawn ; Hall, Patricia ; Hamm, J. Austin...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108339 , 2024
Link: https://doi.org/10.1016/..
 
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8

O37: Elucidating the metabolic signature of Krabbe disease ..:

Wurth, Rachel ; Turgeon, Coleman ; Stander, Zinandre...
Genetics in Medicine Open.  2 (2024)  - p. 100876 , 2024
Link: https://doi.org/10.1016/..
 
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9

Porphyria diagnostic yield and testing experience: Where bi..:

Selner, Elizabeth ; Peck, Dawn ; Schultz, Matthew...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108292 , 2024
Link: https://doi.org/10.1016/..
 
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10

P003: Clinical laboratory experience of frataxin quantifica..:

Pantovich, Iris ; White, Amy ; Studinski, April...
Genetics in Medicine Open.  2 (2024)  - p. 100880 , 2024
Link: https://doi.org/10.1016/..
 
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11

O03: Exploiting narrow therapeutic windows: Utility of the ..:

Gerald, Dayebgadoh ; Tortorelli, Silvia ; White, Amy...
Genetics in Medicine Open.  1 (2023)  1 - p. 100004 , 2023
Link: https://doi.org/10.1016/..
 
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12

Acquired erythropoietic uroporphyria associated with clonal..:

Swanson, Leah A. ; Johannsson, Freyr ; Tortorelli, Silvia..
JAAD Case Reports.  32 (2023)  - p. 44-47 , 2023
Link: https://doi.org/10.1016/..
 
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13

P018: Clinical availability of functional assays: Identifyi..:

Hall, Patricia ; Peck, Dawn ; Pino, Gisele...
Genetics in Medicine Open.  1 (2023)  1 - p. 100028 , 2023
Link: https://doi.org/10.1016/..
 
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14

GLUCOSYLSPHINGOSINE AS AN AID TO THE IDENTIFICATION OF NEWB..:

Pino, Gisele ; Peck, Dawn ; Studinski, April...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107469 , 2023
Link: https://doi.org/10.1016/..
 
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15

A new test method for biochemical analysis of plasmalogens ..:

Wegwerth, Peter J. ; White, Amy L. ; Stoway, Stephanie D....
Journal of Inherited Metabolic Disease.  46 (2023)  6 - p. 1159-1169 , 2023
Link: https://doi.org/10.1002/..
 
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