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Peck, Dawn
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1

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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2

P625: Utility of highest pathogenic variant frequency appro..:

Salsbery, Kyle ; Oglesbee, Devin ; Selner, Elizabeth...
Genetics in Medicine Open.  2 (2024)  - p. 101531 , 2024
Link: https://doi.org/10.1016/..
 
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3

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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4

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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5

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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6

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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7

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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8

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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9

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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10

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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11

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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12

The synergy of multiplex testing to screen for lysosomal di..:

Pino, Gisele ; Nickander, Kim ; Studinski, April...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S98-S99 , 2022
Link: https://doi.org/10.1016/..
 
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13

Outcomes of newborn screening for Krabbe disease and their ..:

White, Amy L. ; Gavrilov, Dimitar ; Pino, Gisele...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S127-S128 , 2022
Link: https://doi.org/10.1016/..
 
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14

Comparison of psychosine analysis in dried blood spots and ..:

White, Amy L. ; Escolar, Maria L. ; Peck, Dawn...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S127 , 2022
Link: https://doi.org/10.1016/..
 
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15

How does plasma oxysterols analysis compare to fibroblast f..:

White, Amy ; Turgeon, Coleman ; Peck, Dawn...
Molecular Genetics and Metabolism.  132 (2021)  - p. S2-S3 , 2021
Link: https://doi.org/10.1016/..
 
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