E-LIB Suche - Ergebnisse für: Stiles, Ashlee

1

Critical sample collection delayed? Urine organic acid anal..:

Stiles, Ashlee ; Williams, Monika ; Menkovic, Iskren...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108293 , 2024

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

2

P027: Analysis of glycosaminoglyans in biological fluids re..:

Menkovic, Iskren ; Beasley, James ; Zhang, Haoyue...
Genetics in Medicine Open. 1 (2023) 1 - p. 100037 , 2023

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

3

TRIHEPTANOIN FOR PATIENTS WITH GLYCOGEN STORAGE DISEASE TYP..:

El-Gharbawy, Areeg ; Cao, Joseph ; Pendyal, Surekha...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107409 , 2023

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

4

Utilization of in-patient genetic testing services at Duke ..:

Stiles, Ashlee ; Ryan, Kari ; Datto, Michael
Molecular Genetics and Metabolism. 132 (2021) - p. S338-S339 , 2021

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

5

Urinary glucose tetrasaccharide correlates with phenotype i..:

Mendez, Roberto ; Bali, Deeksha ; Stiles, Ashlee...
Molecular Genetics and Metabolism. 132 (2021) - p. S11-S12 , 2021

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

6

Characterization of dermatan sulfate and chondroitin sulfat..:

Young, Sarah ; Tallandier, Mireille ; Lacombe, Olivier...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S165 , 2020

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

7

Quantification of glucosylsphingosine in plasma/serum by UP..:

Stiles, Ashlee ; Bali, Deeksha ; Zhang, Haoyue...
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S139-S140 , 2019

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

8

Plasma lyso-Gb3 as a diagnostic marker for Fabry disease:

Young, Sarah ; Zhang, Haoyue ; Dai, Jian...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S151 , 2018

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

9

Critical sample collection delayed? Urine organic acid anal..:

Williams, Monika ; Menkovic, Iskren ; Reitnauer, Pamela...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101062 , 2024

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

10

Early presentation of Morquio B syndrome identified via ske..:

Menkovic, Iskren ; Stiles, Ashlee R. ; Young, Sarah P..
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108286 , 2024

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

11

The designated record set for clinical genetic and genomic ..:

Tayeh, Marwan K. ; Chen, Margaret ; Fullerton, Stephanie M....
Genetics in Medicine. 25 (2023) 3 - p. 100342 , 2023

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

12

RESCUE OF GLUTARIC ACIDURIA TYPE I MICE BY LIVER DIRECTED T..:

Barzi, Mercedes ; Johnson, Collin ; Chen, Tong...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107377 , 2023

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

13

Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in..:

Gayed, Matthew M. ; Jung, Seung-Hye ; Huggins, Erin...
International Journal of Molecular Sciences. 23 (2022) 23 - p. 14938 , 2022

Link: https://doi.org/10.3390/..

14

Phenotypic target organ and biomarker variation within a fa..:

Coker, Jennifer ; Stiles, Ashlee R. ; Bali, Deeksha...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S27 , 2021

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

15

The role of glucosylsphingosine as an early indicator of di..:

Stiles, Ashlee R. ; Huggins, Erin ; Fierro, Luca...
Molecular Genetics and Metabolism Reports. 27 (2021) - p. 100729 , 2021

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