E-LIB Suche - Ergebnisse für: Young, Sarah P.

1

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/..

2

The attenuated hepatic clearance of propionate increases ca..:

Wang, You ; Zhu, Suhong ; He, Wentao...
Basic Research in Cardiology. , 2024

Link: https://doi.org/10.1007/..

3

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/..

4

Whole exome sequencing reveals a dual diagnosis of BCAP31-r..:

Huggins, Erin ; Jackson, David G. ; Young, Sarah P..
Molecular Genetics and Metabolism Reports. 40 (2024) - p. 101117 , 2024

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

5

Reduction of lysosome abundance and GAG accumulation after ..:

Tuyaa-Boustugue, Pascale ; Jantzen, Ingrid ; Zhang, Haoyue...
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101011 , 2023

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

6

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/..

7

An exploratory study of plasma ceramides in comorbidities i..:

Worley, Gordon ; Byeon, Seul Kee ; Smith, P. Brian...
American Journal of Medical Genetics Part A. 191 (2023) 9 - p. 2300-2311 , 2023

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

8

Intrauterine enzyme replacement therapies for lysosomal sto..:

Herzeg, Akos ; Borges, Beltran ; Lianoglou, Billie R....
Prenatal Diagnosis. 43 (2023) 13 - p. 1638-1649 , 2023

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

9

Quantification of Glycosaminoglycans in Urine by Isotope‐Di..:

Zhang, Haoyue ; Young, Sarah P. ; Millington, David S.
Current Protocols. 3 (2023) 3 - p. , 2023

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

10

Intra-Articular AAV9 α-l-Iduronidase Gene Replacement in th..:

Wang, Raymond Yu-Jeang ; Kan, Shih-Hsin ; Zhang, Haoyue...
Advances in Cell and Gene Therapy. 2023 (2023) - p. 1-14 , 2023

Link: https://doi.org/10.1155/..

11

A RETROSPECTIVE LONGITUDINAL STUDY AND COMPREHENSIVE REVIEW..:

Hijazi, Ghada ; Paschall, Anna ; Young, Sarah P....
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 275-276 , 2022

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

12

MPS VI associated ocular phenotypes in an MPS VI murine mod..:

Entchev, Eugeni ; Antonelli, Sophie ; Mauro, Virginie...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. 143-153 , 2022

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

13

Cerebrospinal fluid amino acids glycine, serine, and threon..:

Swanson, Michael A. ; Miller, Kristen ; Young, Sarah P....
Journal of Inherited Metabolic Disease. 45 (2022) 4 - p. 734-747 , 2022

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

14

A retrospective longitudinal study and comprehensive review..:

Hijazi, Ghada ; Paschall, Anna ; Young, Sarah P....
Molecular Genetics and Metabolism Reports. 29 (2021) - p. 100821 , 2021

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

15

Multidimensional predictors of antidepressant responses: In..:

Nasca, Carla ; Barnhill, Olivia ; DeAngelis, Paolo...
Neurobiology of Stress. 15 (2021) - p. 100407 , 2021

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