E-LIB Suche - Ergebnisse für: Germain, Dominique P

1

Pegunigalsidase alfa: a novel, pegylated recombinant alpha-..:

Germain, Dominique P. ; Linhart, Ales
Frontiers in Genetics. 15 (2024) - p. , 2024

2

Use of T1 mapping in cardiac MRI for the follow-up of Fabry..:

Werner, Oscar ; Ichay, Lydia ; Djouadi, Nabila...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101044 , 2024

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

3

Prevalence of Fabry disease in patients with chronic pain: ..:

Angelini, Chloé ; Bar, Claire ; Baudier, Marie Pierre...
European Journal of Pain. , 2024

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

4

Facilitating intrafamily communication to enable earlier di..:

Germain, Dominique P. ; Al Murshedi, Fathiya ; Al Jasmi, Fatma...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107838 , 2024

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

5

Clinical outcomes among young patients with Fabry disease w..:

Hopkin, Robert J. ; Cabrera, Gustavo H. ; Jefferies, John L....
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 106967 , 2023

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

6

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/..

7

Screening of Fabry disease in patients with an implanted pe..:

Fingrova, Zdenka ; Havranek, Stepan ; Sknouril, Libor...
International Journal of Cardiology. 372 (2023) - p. 71-75 , 2023

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

8

Global reach of over 20 years of experience in the patient-..:

Wanner, Christoph ; Ortiz, Alberto ; Wilcox, William R....
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107603 , 2023

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

9

Consenso colombiano de expertos sobre recomendaciones basad..:

Baquero Rodriguez, Richard ; Serrano Gayubo, Ana Katherina ; Prieto Rivera, Juan Carlos...
Revista Ciencias de la Salud. 21 (2023) 3 - p. 1-24 , 2023

Link: https://doi.org/10.12804..

10

Diagnostic work-up and phenotypic characteristics of a fami..:

Dabaj, Ivana ; Carlier, Robert Y. ; Dieterich, Klaus...
Frontiers in Genetics. 13 (2023) - p. , 2023

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

11

Interpreting the pathogenicity of genetic variants in rare ..:

Germain, Dominique P. ; Levade, Thierry ; Hachulla, Eric...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S45 , 2022

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

12

An expert consensus on practical clinical recommendations a..:

Germain, Dominique P. ; Altarescu, Gheona ; Barriales-Villa, Roberto...
Molecular Genetics and Metabolism. 137 (2022) 1-2 - p. 49-61 , 2022

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

13

The Benefits of Family Screening in Rare Diseases: Genetic ..:

Moiseev, Sergey ; Tao, Ekaterina ; Moiseev, Alexey...
Genes. 13 (2022) 9 - p. 1619 , 2022

Link: https://doi.org/10.3390/..

14

Fabry Disease:

, In: Neurocutaneous Disorders,

Germain, Dominique P. - p. 459-465 , 2022

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

15

Featured Cover:

Germain, Dominique P. ; Levade, Thierry ; Hachulla, Eric...
Clinical Genetics. 101 (2022) 4 - p. , 2022

Link: https://doi.org/10.1111/..