E-LIB Suche - Ergebnisse für: Spiridigliozzi, Gail A.

1

IOPD entering adulthood: Lessons from two decades of ERT ex..:

Stafford, Grace ; Rodriguez-Rassi, Eleanor ; Desai, Ankit K....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108047 , 2024

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

2

Severe CNS involvement in a subset of long-term treated chi..:

Kenney-Jung, Daniel ; Korlimarla, Aditi ; Spiridigliozzi, Gail A....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108119 , 2024

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

3

High performing male with fragile X syndrome with an unmeth..:

Shieh, Meg ; Amkraut, Keren ; Spiridigliozzi, Gail A....
Clinical Case Reports. 11 (2023) 6 - p. , 2023

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

4

Pneumonia vaccine response in individuals with Down syndrom..:

Santoro, Stephanie L. ; Baloh, Carolyn H. ; Hart, Sarah J....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 4 - p. , 2023

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

5

Behavioral, social and school functioning in children with ..:

Korlimarla, Aditi ; Spiridigliozzi, Gail A. ; Stefanescu, Mihaela..
Molecular Genetics and Metabolism Reports. 25 (2020) - p. 100635 , 2020

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

6

Novel approaches to quantify CNS involvement in children wi..:

Korlimarla, Aditi ; Spiridigliozzi, Gail A. ; Crisp, Kelly...
Neurology. 95 (2020) 6 - p. , 2020

Link: https://doi.org/10.1212/..

7

Parent report of school functioning and behavior in childre..:

Stefanescu, Mihaela C. ; Spiridigliozzi, Gail A. ; Austin, Stephanie L..
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S138 , 2019

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

8

Cognition and brain involvement in infantile Pompe disease:

Herbert, Mrudu ; Spiridigliozzi, Gail A. ; Chen, Steven...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S62 , 2018

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

9

Adaptive behavior in adolescents and adults with Down syndr..:

Spiridigliozzi, Gail A. ; Goeldner, Celia ; Edgin, Jamie...
American Journal of Medical Genetics Part A. 179 (2018) 1 - p. 85-93 , 2018

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

10

Cognitive and academic outcomes in long-term survivors of i..:

Spiridigliozzi, Gail A. ; Keeling, Lori A. ; Stefanescu, Mihaela...
Molecular Genetics and Metabolism. 121 (2017) 2 - p. 127-137 , 2017

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

11

Pharmacological interventions to improve cognition and adap..:

Hart, Sarah J. ; Visootsak, Jeannie ; Tamburri, Paul...
American Journal of Medical Genetics Part A. 173 (2017) 11 - p. 3029-3041 , 2017

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

12

Challenges in measuring the effects of pharmacological inte..:

Keeling, Lori A. ; Spiridigliozzi, Gail A. ; Hart, Sarah J....
American Journal of Medical Genetics Part A. 173 (2017) 11 - p. 3058-3066 , 2017

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

13

Safety and efficacy of rivastigmine in children with Down s..:

Spiridigliozzi, Gail A. ; Hart, Sarah J. ; Heller, James H....
American Journal of Medical Genetics Part A. 170 (2016) 6 - p. 1545-1555 , 2016

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

14

Assessment of Cognitive Scales to Examine Memory, Executive..:

Liogier d'Ardhuy, Xavier ; Edgin, Jamie O. ; Bouis, Charles...
Frontiers in Behavioral Neuroscience. 9 (2015) - p. , 2015

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

15

Cognitive outcome of patients with classic infantile Pompe ..:

Spiridigliozzi, Gail A. ; Heller, James H. ; Kishnani, Priya S.
Neurology. 80 (2013) 12 - p. 1173-1173 , 2013

Link: https://doi.org/10.1212/..