E-LIB Suche - Ergebnisse für: Larson, Austin A.

1

ACAD9 treatment with bezafibrate and nicotinamide riboside ..:

Van Hove, Johan L.K. ; Friederich, Marisa W. ; Hock, Daniella H....
Mitochondrion. 78 (2024) - p. 101905 , 2024

2

Genetically and clinically confirmed atypical cerebrotendin..:

DeBarber, Andrea E. ; Schaefer, Ernst J. ; Do, Jenny...
Journal of Clinical Lipidology. 18 (2024) 3 - p. e465-e476 , 2024

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

3

Multi-center implementation of rapid whole genome sequencin..:

Thompson, Lauren ; Larson, Austin ; Salz, Lisa...
Frontiers in Pediatrics. 12 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

4

Novel molecular mechanism in Malan syndrome uncovered throu..:

Zhao, Jian ; Longo, Nicola ; Lewis, Robert G....
American Journal of Medical Genetics Part A. 194 (2024) 5 - p. , 2024

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

5

A complement C4–derived glycopeptide is a biomarker for PMM..:

Garapati, Kishore ; Budhraja, Rohit ; Saraswat, Mayank...
JCI Insight. 9 (2024) 7 - p. , 2024

Link: https://doi.org/10.1172/..

6

Evaluation of chenodeoxycholic acid treatment in adult pati..:

DeBarber, Andrea ; Kisanuki, Yaz ; Nobrega, Paulo...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108216 , 2024

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

7

O20: Beyond the genome: RNA sequencing resolves unique diag..:

Lewis, Robert ; Fulmer, Makenzie ; Zhao, Jian...
Genetics in Medicine Open. 2 (2024) - p. 101470 , 2024

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

8

Cardiomyopathy, an uncommon phenotype of congenital disorde..:

Zemet, Roni ; Hope, Kyle D. ; Edmondson, Andrew C....
Molecular Genetics and Metabolism. 142 (2024) 4 - p. 108513 , 2024

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

9

Frontiers in congenital disorders of glycosylation consorti..:

Lam, Christina ; Scaglia, Fernando ; Berry, Gerard T....
Molecular Genetics and Metabolism. 142 (2024) 4 - p. 108509 , 2024

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

10

P142: Efficacy, safety and tolerability of chenodeoxycholic..:

DeBarber, Andrea ; Kisanuki, Yaz ; Nobrega, Paulo...
Genetics in Medicine Open. 2 (2024) - p. 101039 , 2024

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

11

Defining the phenotype of PGAP3-congenital disorder of glyc..:

Altassan, Ruqaiah ; Allers, Michael M. ; De Graef, Diederik...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107688 , 2023

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

12

Skeletal Health in Patients With Mitochondrial Diabetes: Ca..:

Karakus, Kagan Ege ; Suryadevara, Varun ; Larson, Austin..
JBMR Plus. 7 (2023) 11 - p. , 2023

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

13

The Immune Status of Patients with 16p11.2 Deletion Syndrom:

Wang, Laura A. ; Larson, Austin ; Abbott, Jordan K.
Journal of Clinical Immunology. 43 (2023) 8 - p. 1792-1795 , 2023

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

14

P595: Novel molecular mechanism in Malan syndrome uncovered..:

Zhao, Jian ; Longo, Nicola ; Lewis, Robert...
Genetics in Medicine Open. 1 (2023) 1 - p. 100642 , 2023

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

15

Tracer metabolomics reveals the role of aldose reductase in..:

Radenkovic, Silvia ; Ligezka, Anna N. ; Mokashi, Sneha S....
Cell Reports Medicine. 4 (2023) 6 - p. 101056 , 2023

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