Results 181 to 190 of about 8,804 (200)

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening

Human Mutation, 2021
Stijn L M In 'T Groen, Marianne Hoogeveen-Westerveld, Ans T Ploeg   +2 more
exaly  

Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives

Therapeutics and Clinical Risk Management, 2023
Mainur Khan, David G Mummy, Bastiaan Driehuys   +2 more
exaly  

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

New England Journal of Medicine, 2010
Ans T Van Der Ploeg, Paula R Clemens, Deyanira Corzo   +2 more
exaly  

Consensus treatment recommendations for late‐onset Pompe disease

Muscle and Nerve, 2012
Edward Cupler, Kenneth I Berger, Robert T Leshner   +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 S Kishnani, Christopher Lindberg, Joan Keutzer   +2 more
exaly  

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

Biomolecules, 2020
Naresh K Meena, Nina Raben, Raben Nina
exaly  

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, Rita Horvath, Klaus Gempel   +2 more
exaly  

A genetic modifier of symptom onset in Pompe disease

EBioMedicine, 2019
Atze J Bergsma, Stijn L M In 'T Groen, Jan J A Van Den Dorpel   +2 more
exaly  

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

International Journal of Neonatal Screening, 2020
Julie Fleischer, Stephen R Braddock, Burton Barbara K   +2 more
exaly  

Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase

Molecular Therapy, 2020
Umut Cagin, Francesco Puzzo, Manuel J Gomez   +2 more
exaly