Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease

2014 ◽  
Vol 50 (2) ◽  
pp. 301-302 ◽  
Author(s):  
Yin-Hsiu Chien ◽  
Ni-Chung Lee ◽  
Yueh-Ju Tsai ◽  
Beth L. Thurberg ◽  
Fuu-Jen Tsai ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Levator Muscle ◽  
Treated Child

Unusual presentation of juvenile Pompe disease in infancy with preceding immune thrombocytopenia

2012 ◽  
Vol 43 (02) ◽  
Author(s):  
L Freudenberg ◽  
W Stenzel ◽  
M Laass ◽  
K Pargac ◽  
G Hahn ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Immune Thrombocytopenia ◽  
Unusual Presentation

Cardiac and motor improvement with enzyme replacement therapy in a patient with infantile-onset Pompe disease

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
M Smitka ◽  
M von der Hagen ◽  
A Kaindl ◽  
C Gilitzer ◽  
J Dumontier ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Motor Improvement

Treating Pompe Disease

2015 ◽  
Vol 082 (01) ◽  
Author(s):  
Julie Bokor ◽  
Houda Darwiche ◽  
Drew Joseph
Keyword(s):  
Pompe Disease

scholarly journals The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Jorge A. Bevilacqua ◽  
Maria del Rosario Guecaimburu Ehuletche ◽  
Abayuba Perna ◽  
Alberto Dubrovsky ◽  
Marcondes C. Franca ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Latin American ◽  
Pompe Disease ◽  
Muscular Weakness ◽  
Next Generation ◽  
American Experience ◽  
Generation Sequencing

Late onset Pompe Disease in India – Beyond the Caucasian phenotype

2021 ◽  
Author(s):  
Ratna Dua Puri ◽  
Nitika Setia ◽  
Vinu N ◽  
Sujatha Jagadeesh ◽  
Sheela Nampoothiri ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset

Description of a patient with infantile onset Pompe disease after 45 months of enzyme replacement therapy

2018 ◽  
Vol 123 (2) ◽  
pp. S124-S125
Author(s):  
Roberto Sandobal Pacheco ◽  
Diana Espinosa Villanueva ◽  
Adriana Alcnatara Salinas ◽  
Jorge A. Romero Ramirez ◽  
Jose Antonio Vasquez Galeana ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement

NEO1/NEO-EXT studies: Safety and exploratory efficacy of repeat avalglucosidase alfa dosing after up to 6 years in participants with late-onset pompe disease (LOPD)

2021 ◽  
Vol 132 (2) ◽  
pp. S34
Author(s):  
Mazen M. Dimachkie ◽  
Richard J. Barohn ◽  
Barry Byrne ◽  
Ozlem Goker-Alpan ◽  
Priya S. Kishnani ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset
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