E-LIB Suche - Ergebnisse für: Bernat, John A.

1

Tolerability of pegunigalsidase alfa across the clinical pr..:

Mehta, Ankit ; Wallace, Eric ; Linhart, Aleš...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107962 , 2024

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

2

P145: Paradigm shift in Occam's Razor and the need for geno..:

Tung, Moon Ley ; Chandra, Bharatendu ; Nagy, Jaime...
Genetics in Medicine Open. 2 (2024) - p. 101042 , 2024

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

3

Consensus guidelines for the monitoring and management of m..:

Adang, Laura A. ; Bonkowsky, Joshua L. ; Boelens, Jaap Jan...
Cytotherapy. , 2024

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

4

Isaralgagene civaparvovec (ST-920) gene therapy in adults w..:

Hopkin, Robert J. ; Ganesh, Jaya ; Bernat, John...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107884 , 2024

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

5

Fabry patient's experience of pegunigalsidase alfa monthly ..:

Mehta, Ankit ; Eyskens, Francois J. ; Pisani, Antonio...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107961 , 2024

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

6

Tolerability of pegunigalsidase alfa across the clinical pr..:

Hughes, Derralynn ; Bernat, John ; Linhart, Aleš...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107888 , 2024

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

7

Assessment of immunogenicity from the pegunigalsidase alfa ..:

Bernat, John ; Hughes, Derralynn ; Linhart, Aleš...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107771 , 2024

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

8

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/..

9

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/..

10

P033: Cardiac manifestations of Fabry disease: Insights fro..:

Manternach, Darby ; Reinhardt, Lindsey ; VanOpdorp, Lauren...
Genetics in Medicine Open. 2 (2024) - p. 100910 , 2024

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

11

P005: Head-to-head trial of pegunigalsidase alfa vs agalsid..:

Bernat, John ; Wallace, Eric ; Goker-Alpan, Ozlem...
Genetics in Medicine Open. 1 (2023) 1 - p. 100015 , 2023

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

12

P283: A case of Niemann-Pick disease type C from suspected ..:

Rose, Allyson ; Bernat, John
Genetics in Medicine Open. 1 (2023) 1 - p. 100311 , 2023

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

13

A novel de novo intragenic duplication in FBN1 associated w..:

Piscopo, Anthony ; Warner, Taylor ; Nagy, Jaime...
American Journal of Medical Genetics Part A. 194 (2023) 2 - p. 368-373 , 2023

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

14

Developmental delay can precede neurologic regression in me..:

Adang, Laura A. ; Groeschel, Samuel ; Grzyb, Chloe...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 106989 , 2023

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

15

Head-to-head trial of pegunigalsidase alfa versus agalsidas..:

Wallace, Eric L ; Goker-Alpan, Ozlem ; Wilcox, William R...
Journal of Medical Genetics. 61 (2023) 6 - p. 520-530 , 2023

Link: https://doi.org/10.1136/..