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Tortorelli, Silvia
131
results:
Search for persons
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Format
Online (131)
Mediatypes
Articles (Online) (97)
Bookchapter (Online) (3)
OpenAccess-fulltext (31)
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english (130)
italian (1)
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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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
1-15