E-LIB Suche - Ergebnisse für: Kishnani PS

1

P.39 Diet therapy for GSD XV: a rare disorder of glycogen s..:

Pendyal, S ; Cocanougher, BT ; Koch, RL.
Molecular Genetics and Metabolism. 141 (2024) - p. 108405 , 2024

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

2

PCR70 Avalglucosidase Alfa (AVA) Improves Symptoms and Func..:

Toscano, A ; van der Ploeg, AT ; Berger, KI...
Value in Health. 25 (2022) 12 - p. S403 , 2022

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

3

P.025 Efficacy and safety results of the avalglucosidase al..:

Tarnopolsky, M ; Attarian, S ; Borges, J...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 48 (2021) s3 - p. S27-S27 , 2021

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

4

The Pompe Registry: tracking Pompe disease symptoms in a br..:

Byrne, B ; Kishnani, PS ; Case, L...
Pediatric Rheumatology. 6 (2008) S1 - p. , 2008

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

5

Monitoring and Management of Respiratory Function in Pompe ..:

El Haddad L ; Khan M ; Soufny R...
https://www.dovepress.com/monitoring-and-management-of-respiratory-function-in-pompe-disease-cur-peer-reviewed-fulltext-article-TCRM. , 2023

Link: https://doaj.org/article..

6

HLA- and Genotype-Based Risk Assessment Model to Identify I..:

De Groot, AS ; Kazi, ZB ; Martin, RF...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6554735/. , 2019

Link: http://www.ncbi.nlm.nih...

7

GAA variants and phenotypes among 1,079 patients with Pompe..:

Reuser, Arnold ; van der Ploeg, Ans ; Chien, YH...
Reuser , A , van der Ploeg , A , Chien , YH , Llerena , J , Abbott , MA , Clemens , PR , Kimonis , VE , Leslie , N , Maruti , S S , Sanson , BJ , Araujo , R , Periquet , M , Toscano , A & Kishnani , PS 2019 , ' GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry ' , Human Mutation . https://doi.org/10.1002/humu.23878. , 2019

Link: https://pure.eur.nl/en/p..

8

The Pompe Registry: tracking Pompe disease symptoms in a br..:

Byrne, B ; Kishnani, PS ; Case, L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3333958. , 2008

Link: http://www.ncbi.nlm.nih...

9

The Pompe Registry: tracking Pompe disease symptoms in a br..:

Byrne, B ; Kishnani, PS ; Case, L...
http://www.ped-rheum.com/content/6/S1/P159. , 2008

Link: http://www.ped-rheum.com..

10

The Pompe Registry: tracking Pompe disease symptoms in a br..:

Byrne B ; Kishnani PS ; Case L...
Pediatric Rheumatology 2008, 6 (Suppl 1): P159. , 2008

Link: http://ufdc.ufl.edu/UF00..