E-LIB Suche - Ergebnisse für: Studinski, April

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

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/..

3

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/..

4

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/..

5

IDENTIFYING A MADD-LIKE BIOCHEMICAL IMPOSTER BETTER KNOWN A..:

Stander, Zinandré ; Ammous, Zineb ; Werker, Joanne...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107494 , 2023

Link: https://doi.org/10.1016/..

6

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/..

7

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/..

8

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/..

9

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/..

10

FLAVIN ADENOSINE DINUCLEOTIDE SYNTHASE DEFICIENCY AN ATYPIC..:

Stander, Zinandre ; Ammous, Zineb ; Werker, Jody...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 300 , 2022

Link: https://doi.org/10.1016/..

11

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/..

12

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/..

13

Improving the performance of newborn screening for mucopoly..:

Peck, Dawn ; White, Amy ; Pino, Gisele...
Molecular Genetics and Metabolism. 132 (2021) - p. S23 , 2021

Link: https://doi.org/10.1016/..

14

The role of biomarkers for the follow up of infants with po..:

Pino, Gisele ; Studinski, April ; White, Amy...
Molecular Genetics and Metabolism. 132 (2021) - p. S20 , 2021

Link: https://doi.org/10.1016/..

15

A new D‐galactose treatment monitoring index for PGM1‐CDG:

Perales‐Clemente, Ester ; Liedtke, Kristen ; Studinski, April...
Journal of Inherited Metabolic Disease. 44 (2021) 5 - p. 1263-1271 , 2021

Link: https://doi.org/10.1002/..