E-LIB Suche - Ergebnisse für: Patrick B. Deegan

1

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

2

Baseline demographics of the UK Early Access to Medicines S..:

Roberts, Mark E. ; Cole, Duncan ; Deegan, Patrick B....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108018 , 2024

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

3

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/..

4

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/..

5

Long-term safety and efficacy of pegunigalsidase alfa admin..:

Bernat, John ; Holida, Myrl D. ; Longo, Nicola...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107027 , 2023

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

6

Management of pain in Fabry disease in the UK clinical sett..:

Stepien, Karolina M. ; Broomfield, Alexander ; Cole, Duncan...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

7

Lyso-Gb1 as a biomarker of the real-world situation in Gauc..:

Zimran, Ari ; Revel-Vilk, Shoshana ; Dinur, Tama...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107369 , 2023

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

8

Venglustat, an orally administered glucosylceramide synthas..:

Deegan, Patrick B. ; Goker-Alpan, Ozlem ; Geberhiwot, Tarekegn...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 106963 , 2023

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

9

A study to evaluate the effect of venglustat on neuropathic..:

Hopkin, Robert ; Kupferman, Joseph ; Deegan, Patrick B....
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S56-S57 , 2022

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

10

Accuracy of chitotriosidase activity and CCL18 concentratio..:

Tatiana Raskovalova ; Patrick B. Deegan ; Pramod K. Mistry...
Haematologica. 106 (2020) 2 - p. 437-445 , 2020

Link: https://doi.org/10.3324/..

11

Early indicators of disease progression in Fabry disease th..:

Hughes, Derralynn A ; Aguiar, Patricio ; Deegan, Patrick B...
BMJ Open. 10 (2020) 10 - p. e035182 , 2020

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

12

Mechanistic convergence and shared therapeutic targets in N..:

Colaco, Alexandria ; Kaya, Ecem ; Adriaenssens, Elias...
Journal of Inherited Metabolic Disease. 43 (2019) 3 - p. 574-585 , 2019

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

13

Plasma chitotriosidase activity versus CCL18 level for asse..:

Raskovalova, Tatiana ; Deegan, Patrick B. ; Yang, Ruby...
Systematic Reviews. 6 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

14

Risk factors for fracture in imiglucerase-treated Gaucher d..:

Deegan, Patrick B. ; Batista, Julie
Molecular Genetics and Metabolism. 117 (2016) 2 - p. S40 , 2016

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

15

Clinical Features of Lysosomal Acid Lipase Deficiency:

Burton, Barbara K. ; Deegan, Patrick B. ; Enns, Gregory M....
Journal of Pediatric Gastroenterology and Nutrition. 61 (2015) 6 - p. 619-625 , 2015

Link: https://doi.org/10.1097/..