Results 151 to 160 of about 6,173 (169)

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Neuromuscular Disorders, 2007
Wolfgang Müller-Felber, Benedikt Schoser, Rita Horvath   +2 more
exaly  

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants

International Journal of Neonatal Screening, 2020
Stephen Braddock, Julie Fleischer, Joel Charrow   +2 more
exaly  

Modulation of mTOR signaling as a strategy for the treatment of Pompe disease

EMBO Molecular Medicine, 2017
Orian S Shirihai, Nina Raben, Rosa Puertollano   +2 more
exaly  

Consensus treatment recommendations for late‐onset Pompe disease

Muscle and Nerve, 2012
Edward Cupler, Kenneth I Berger
exaly  

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Human Mutation, 2019
Priya Kishnani, Yin-Hsiu Chien, Paula Clemens   +2 more
exaly  

TREATMENT OF POMPE'S DISEASE

2000
VAN BREE JOHANNES BRENARDUS MA, VENNEKER EDNA HENRIETTE GERMAI, MEEKER DAVID P   +2 more
openaire   +7 more sources

Pompe disease: from pathophysiology to therapy and back again

Frontiers in Aging Neuroscience, 2014
Nina Raben, Lishu Li, Jeong-A Lim
exaly  

MRNA therapy for Pompe disease

2016
DEROSA FRANK, HEARTLEIN MICHAEL
openaire   +7 more sources

The prevalence and impact of scoliosis in Pompe disease: Lessons learned from the Pompe Registry

Molecular Genetics and Metabolism, 2011
Mark Roberts, Priya Kishnani, Wolfgang Müller-Felber   +2 more
exaly  

Timing of diagnosis of patients with pompe disease: Data from the pompe registry

American Journal of Medical Genetics, Part A, 2013
Priya Kishnani
exaly