E-LIB Suche - Ergebnisse für: Kumar, Monica

1

Impact of homozygous p.Arg610del genotype on disease burden..:

Wasserstein, Melissa ; Kumar, Monica ; Armstrong, Nicole...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108076 , 2024

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

2

Improvements in liver and lipid outcomes continue in childr..:

Lachmann, Robin ; Ganesh, Jaya ; Giugliani, Roberto...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107927 , 2024

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

3

Olipudase alfa enzyme replacement therapy reverses intersti..:

Wasserstein, Melissa ; Bonella, Francesco ; Giugliani, Roberto...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108075 , 2024

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

4

Quantitative systems pharmacology (QSP) analysis predicts t..:

Leiser, Randolph J. ; Tao, Mengdi ; Kaddi, Chanchala...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107198 , 2023

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

5

Continued improvement in disease manifestations of acid sph..:

Wasserstein, Melissa P. ; Lachmann, Robin ; Hollak, Carla...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

6

Correction : Long-term safety and clinical outcomes of olip..:

Diaz, George A. ; Giugliani, Roberto ; Gufon, Nathalie...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

7

P349: Plasma lyso-sphingomyelin, biomarker for acid sphingo..:

Wasserstein, Melissa ; Giugliani, Roberto ; Jones, Simon...
Genetics in Medicine Open. 1 (2023) 1 - p. 100377 , 2023

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

8

Long-term catch-up growth in children with acid sphingomyel..:

Giugliani, Roberto ; Diaz, George ; Guffon, Nathalie...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107115 , 2023

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

9

Plasma lyso-sphingomyelin as a biomarker for acid sphingomy..:

Wasserstein, Melissa P. ; Giugliani, Roberto ; Jones, Simon...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107355 , 2023

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

10

Pediatric and adult acid sphingomyelinase deficiency (ASMD)..:

Tao, Mengdi ; Leiser, Randolph J. ; Kaddi, Chanchala...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107334 , 2023

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

11

Olipudase alfa enzyme replacement therapy for acid sphingom..:

Lachmann, Robin H. ; Diaz, George A. ; Wasserstein, Melissa P....
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

12

Safety and clinical outcomes in children with acid sphingom..:

Kumar, Monica ; Armstrong, Nicole ; Kim, Yong...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107188 , 2023

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

13

A randomized, placebo-controlled clinical trial evaluating ..:

Wasserstein, Melissa ; Lachmann, Robin ; Hollak, Carla...
Genetics in Medicine. 24 (2022) 7 - p. 1425-1436 , 2022

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

14

eP280: Continued improvement in adults with acid sphingomye..:

Wasserstein, Melissa ; Barbato, Antonio ; Gallagher, Renata...
Genetics in Medicine. 24 (2022) 3 - p. S176-S177 , 2022

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

15

Continued improvement in pulmonary outcomes in 3 clinical t..:

Scarpa, Maurizio ; Diaz, George A. ; Giugliani, Roberto...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S108 , 2022

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