E-LIB Suche - Ergebnisse für: Botha, Jaco

1

Twelve Years of the Gaucher Outcomes Survey (GOS): Insights..:

Elstein, Deborah ; Belmatoug, Nadia ; Bembi, Bruno...
Journal of Clinical Medicine. 13 (2024) 12 - p. 3588 , 2024

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

2

Clinical outcomes in elderly patients receiving agalsidase ..:

Nowak, Albina ; Botha, Jaco ; Anagnostopoulou, Christina.
Molecular Genetics and Metabolism. , 2024

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

3

Long-Term Treatment of Gaucher Disease with Velaglucerase A..:

Deegan, Patrick ; Lau, Heather ; Elstein, Deborah...
Journal of Clinical Medicine. 13 (2024) 10 - p. 2782 , 2024

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

4

A Post-Authorization Safety Surveillance Study to Report Cl..:

Igrutinović, Zoran ; Hooimeijer, Hélène ; Kentouche, Karim...
Journal of Blood Medicine. 15 (2024) - p. 113-122 , 2024

Link: https://doi.org/10.2147/..

5

Characteristics and management of US pediatric patients wit..:

Goker-Alpan, Ozlem ; Burrow, Andrew ; Enns, Gregory M....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107854 , 2024

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

6

Characterization of orthopedic manifestations in patients w..:

Link, Bianca ; Botha, Jaco ; Giugliani, Roberto
JIMD Reports. 65 (2023) 1 - p. 17-24 , 2023

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

7

FindZebra online search delving into rare disease case repo..:

Liévin, Valentin ; Hansen, Jonas Meinertz ; Lund, Allan...
PLOS Digital Health. 2 (2023) 6 - p. e0000269 , 2023

Link: https://doi.org/10.1371/..

8

Clinical Profile Among Brazilian Mucopolysaccharidosis type..:

Horovitz, Dafne D G ; Ribeiro, Márcia G ; Acosta, Angelina X...
Journal of Inborn Errors of Metabolism and Screening. 11 (2023) - p. , 2023

Link: https://doi.org/10.1590/..

9

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/..

10

Long-term outcomes in patients with Fabry disease who were ..:

Giugliani, Roberto ; Hughes, Derralynn ; Nicholls, Kathy...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107118 , 2023

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

11

Reply to Mistry et al. The Two Substrate Reduction Therapie..:

Hughes, Derralynn A. ; Deegan, Patrick ; Giraldo, Pilar...
Journal of Clinical Medicine. 12 (2023) 12 - p. 4017 , 2023

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

12

Early initiation of agalsidase alfa treatment improves clin..:

Morell, Guillem Pintos ; Kampmann, Christoph ; Botha, Jaco...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107273 , 2023

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

13

Safety profile of idursulfase administered at home in patie..:

Burton, Barbara K. ; Guffon, Nathalie ; Roberts, Jane...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107040 , 2023

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

14

Real-world data in patients with congenital hemophilia and ..:

Ettingshausen, Carmen Escuriola ; Hermans, Cedric ; Holme, Pål A....
Therapeutic Advances in Hematology. 14 (2023) - p. , 2023

Link: https://doi.org/10.1177/..

15

Clinical characteristics and somatic burden of patients wit..:

Lau, Heather ; Harmatz, Paul ; Botha, Jaco..
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101005 , 2023

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