E-LIB Suche - Ergebnisse für: Stockton, David W.

1

Motor Responses in Pediatric Pompe Disease in the ADVANCE P..:

Duong, Tina ; Kishnani, Priya S. ; An Haack, Kristina...
Journal of Neuromuscular Diseases. 9 (2022) 6 - p. 713-730 , 2022

Link: https://doi.org/10.3233/..

2

Cardiac responses in paediatric Pompe disease in the ADVANC..:

Byrne, Barry J. ; Colan, Steven D. ; Kishnani, Priya S....
Cardiology in the Young. 32 (2021) 3 - p. 364-373 , 2021

Link: https://doi.org/10.1017/..

3

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Seve..:

Sen, Kuntal ; Kaur, Shagun ; Stockton, David W...
American Journal of Perinatology Reports. 11 (2021) 1 - p. e26-e28 , 2021

Link: https://doi.org/10.1055/..

4

Management of COVID‐19 infection in organic acidemias:

Kaur, Shagun ; Campbell, Stephanie L. ; Stockton, David W.
American Journal of Medical Genetics Part A. 185 (2021) 6 - p. 1854-1857 , 2021

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

5

Respiratory function during enzyme replacement therapy in l..:

Stockton, David W. ; Kishnani, Priya ; van der Ploeg, Ans...
Journal of Neurology. 267 (2020) 10 - p. 3038-3053 , 2020

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

6

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) ..:

Beck, Tyler F ; Veenma, Danielle ; Shchelochkov, Oleg A...
Human Molecular Genetics. 29 (2020) 6 - p. 1054-1054 , 2020

Link: https://doi.org/10.1093/..

7

Characteristics of Pompe disease patients with and without ..:

Abbott, Mary-Alice ; Mongini, Tiziana Enrica ; Schoser, Benedikt...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S16 , 2020

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

8

Clinical characteristics and genotypes in the ADVANCE basel..:

Kishnani, Priya S. ; Gibson, James B. ; Gambello, Michael J....
Genetics in Medicine. 21 (2019) 11 - p. 2543-2551 , 2019

Link: https://doi.org/10.1038/..

9

Impact of time from diagnosis to treatment on lung function..:

Stockton, David W. ; Boentert, Matthias ; Byrne, Barry...
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S140 , 2019

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

10

North American experience with laronidase enzyme replacemen..:

Gillis, Jane ; Burton, Barbara ; Inbar-Feigenberg, Michal...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S52 , 2018

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

11

Long-term study of growth and development outcomes in patie..:

Stockton, David W. ; Shankar, Suma P. ; Haack, Kristina An..
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S136 , 2018

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

12

Efficacy, safety profile, and immunogenicity of alglucosida..:

Hahn, Si Houn ; Kronn, David ; Leslie, Nancy D....
Genetics in Medicine. 20 (2018) 10 - p. 1284-1294 , 2018

Link: https://doi.org/10.1038/..

13

Mucopolysaccharidosis Type I Newborn Screening: Best Practi..:

Clarke, Lorne A. ; Atherton, Andrea M. ; Burton, Barbara K....
The Journal of Pediatrics. 182 (2017) - p. 363-370 , 2017

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

14

Impact of earlier treatment on respiratory function in pati..:

Stockton, David W ; Berger, Kenneth I ; Boentert, Matthias...
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S128 , 2017

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

15

Clinical characteristics and genotypes in the ADVANCE basel..:

Kishnani, Priya S. ; Day, John W. ; Gambello, Michael...
Molecular Genetics and Metabolism. 117 (2016) 2 - p. S68 , 2016

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