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

1

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

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

2

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/..

3

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/..

4

ACAD9 treatment with bezafibrate and nicotinamide riboside ..:

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

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

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

Piloting a multidisciplinary approach to improve outcomes o..:

Micke, Kestutis C. ; Elfman, Hannah M. ; Fantauzzo, Katherine A....
Prenatal Diagnosis. 43 (2023) 4 - p. 544-552 , 2023

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

12

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/..

13

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/..

14

Living with Cerebrotendinous Xanthomatosis: Patient, Caregi..:

Steiner, Robert D. ; DeBarber, Andrea ; Larson, Austin...
Advances in Therapy. 41 (2023) 2 - p. 467-475 , 2023

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

15

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/..