Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Grant, Christina L.
1759  Ergebnisse:
Personensuche X
?
1

P184: Hypermobility clinic: Innovative workflow supporting ..:

Chapman, Kimberly ; Vause, Spencer ; Berger, Seth...
Genetics in Medicine Open.  2 (2024)  - p. 101081 , 2024
Link: https://doi.org/10.1016/..
 
?
2

Emerging challenges in lysosomal newborn screening: A multi..:

Kuperman, KeriAnn W. ; Grant, Christina L. ; Failla, Allison...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107924 , 2024
Link: https://doi.org/10.1016/..
 
?
3

P261: Vestronidase alfa for the treatment of mucopolysaccha..:

Giugliani, Roberto ; Gonzalez-Meneses, Antonio ; Grant, Christina...
Genetics in Medicine Open.  2 (2024)  - p. 101157 , 2024
Link: https://doi.org/10.1016/..
 
?
4

Thiamine responsive MSUD due to splice altering variants: C..:

Billington, Charles ; MacLeod, Erin ; Jacobson, Jenny...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108183 , 2024
Link: https://doi.org/10.1016/..
 
?
5

Expedited Exome Reanalysis Following Deep Phenotyping and M..:

Pickup, Elizabeth ; Moore, Steven A. ; Suwannarat, Pim...
Pediatric Neurology.  156 (2024)  - p. 178-181 , 2024
Link: https://doi.org/10.1016/..
 
?
6

An updated management approach of Pompe disease patients wi..:

Desai, Ankit K. ; Shrivastava, Garima ; Grant, Christina L....
Frontiers in Immunology.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
?
7

New insights into the use of bortezomib-based immunomodulat..:

Shrivastava, Garima ; Desai, Ankit K. ; Grant, Christina L...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108046 , 2024
Link: https://doi.org/10.1016/..
 
?
8

Mucopolysaccharidosis type VII (Sly syndrome) - What do we ..:

Grant, Christina L. ; López-Valdez, Jaime ; Marsden, Deborah.
Molecular Genetics and Metabolism.  141 (2024)  3 - p. 108145 , 2024
Link: https://doi.org/10.1016/..
 
?
9

Implementation of a tier system for IVIG indications to add..:

Roth, Kristina ; Darwish, Christina ; Keller, Michael D....
Pediatric Blood & Cancer.  71 (2024)  4 - p. , 2024
Link: https://doi.org/10.1002/..
 
?
10

Disease characteristics, effectiveness, and safety of vestr..:

Giugliani, Roberto ; Gonzalez-Meneses, Antonio ; Scarpa, Maurizio...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
?
11

Vestronidase alfa for the treatment of mucopolysaccharidosi..:

Giugliani, Roberto ; Grant, Christina L. ; Scarpa, Maurizio...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107851 , 2024
Link: https://doi.org/10.1016/..
 
?
12

Performance measures and patient/caregiver-reported assessm..:

Malkus, Betsy C. ; Cohen, Jeanne M. ; Grant, Christina L....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107949 , 2024
Link: https://doi.org/10.1016/..
 
?
13

Cardiac findings in neuronopathic MPS I: A case series:

Grant, Christina L. ; Failla, Allison ; Kuperman, KeriAnn W.
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107860 , 2024
Link: https://doi.org/10.1016/..
 
?
14

P024: Role of muscle biopsy and exome re-analysis in a myst..:

Pickup, Elizabeth ; Sen, Kuntal ; Moore, Steven...
Genetics in Medicine Open.  2 (2024)  - p. 100901 , 2024
Link: https://doi.org/10.1016/..
 
?
15

Case comparison of 3 infants diagnosed with MPS I by newbor..:

Grant, Christina L. ; Kuperman, KeriAnn W. ; Shaw, Allison
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107127 , 2023
Link: https://doi.org/10.1016/..
 
1-15