Results 121 to 130 of about 5,969 (170)

Enzyme replacement therapy for the treatment of late onset Pompe disease: A systematic review and network meta-analysis. [PDF]

Orphanet J Rare Dis
Corbett M, Umemneku-Chikere C, Nevitt S, Deng NJ, Walton M, Fulbright H, Tan CY, Lachmann R, Churchill R, Hodgson R.   +9 more
europepmc   +1 more source

Enzyme replacement therapies in adults with Pompe disease: from trials to real-world data. [PDF]

Curr Opin Neurol
van der Beek NAME, Potters LH, Schoser B.   +2 more
europepmc   +1 more source

When the Diaphragm Fails: Visual Hallucinations Due to Isolated Respiratory Muscle Weakness as a First Manifestation of Late-Onset Pompe Disease. [PDF]

Eur J Case Rep Intern Med
Van Lierde C, Brancaleone M, Cornelis T, Weytjens K, Claeys K, Hermans G.   +5 more
europepmc   +1 more source

Management of Pompe disease alongside and beyond ERT: a narrative review. [PDF]

Acta Myol
Risi B, Caria F, Bertella E, Giovanelli G, Gatti S, Poli L, Gazzina S, Leggio U, Bozzoni V, Volonghi I, Allali NA, Ottelli E, Ferrari E, Marrello A, Ricci G, Siciliano G, Padovani A, Filosto M.   +17 more
europepmc   +1 more source

Successful Pregnancy Outcome in Patient with Pompe Disease Despite Discontinuation of Enzyme Replacement Therapy. [PDF]

Eur J Case Rep Intern Med
Leskovar Lemešić D, Perica D, Zlopaša G, Knezić Frković B, Šućur N, Reiner Ž, Pećin I.   +6 more
europepmc   +1 more source

Editorial Note: The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease. [PDF]

PLoS One
PLOS One Editors.
europepmc   +1 more source

Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population. [PDF]

Int J Neonatal Screen
Cheah FC, Syed Omar SA, Lee J, Ang ZJ, Gopal AR, Wan Md Zin WN, Ng BK, Chiang SC, Chien YH.   +8 more
europepmc   +1 more source

Re-anchoring the Value of Innovative Therapies in NICE Decision Making When Comparators are Cost Ineffective: A Case Study of Late-Onset Pompe Disease. [PDF]

Pharmacoeconomics
Walton M, Deng NJ, Corbett M, Umemneku-Chikere C, Nevitt SJ, Fulbright H, Tan CY, Lachmann R, Churchill R, Hodgson R.   +9 more
europepmc   +1 more source

An Indirect Treatment Comparison of Avalglucosidase Alfa versus Cipaglucosidase Alfa Plus Miglustat in Patients with Late-Onset Pompe Disease. [PDF]

Adv Ther
Roberts ME, Proskorovsky I, Guyot P, Shukla P, Thibault N, Hamed A, Pulikottil-Jacob R, O'Callaghan L, Pollissard L.   +8 more
europepmc   +1 more source

Novel transferrin receptor-mediated enzyme replacement therapy efficiently treats myogenic and neurogenic aspects of Pompe disease in mice. [PDF]

Mol Ther Methods Clin Dev
George K, Riley R, Zhou S, Allen E, Smith L, Kistanova E, Kinton S, Guo L, Bangari D, Ismail A, Thummapudi J, Boumezbeur F, Selingue E, Tamarelle D, Capdevila C, Do TM, Lesuisse D, Leksa N, Sardi P, van der Flier A.   +19 more
europepmc   +1 more source