Results 131 to 140 of about 8,804 (200)

Pompe Disease: A Case Presentation

Journal of Neuromuscular Diseases, 2015
A, Hancu, N, Butoianu, R, Rosioru
openaire   +3 more sources

Mapping lung function in late-onset Pompe disease using label-free functional MRI. [PDF]

iScience
Tan L, Wagner AL, Heiss R, Bayerl N, Zschüntzsch J, Regensburger AP, Alves F, Türk M, Schmidt S, Grimm R, Vorgerd M, Schlaffke L, Vogt-Wolz H, Claßen M, Stoecklein B, Buehler A, Woelfle J, Uder M, Hahn A, Mensch A, Winterholler M, Trollmann R, Raming R, Knieling F.   +23 more
europepmc   +1 more source

Gait analysis reveals new outcome measures for monitoring disease progression in individuals with late-onset Pompe disease. [PDF]

J Neuroeng Rehabil
Claramunt-Molet M, Pegueroles J, Pi-Cervera A, Rico M, Idelsohn-Zielonka S, Domínguez-González C, Corti M, Antón V, Salabarria SM, Wong K, James MK, Byrne BJ, Díaz-Manera J.   +12 more
europepmc   +1 more source

Generation and characterization of a novel Gaa compound heterozygous mouse model recapitulating human Pompe disease. [PDF]

Orphanet J Rare Dis
Huang W, Wang J, Zhou Y, Xiao H, Jiang K, Cui J, Zhang Y, Zhou R.   +7 more
europepmc   +1 more source

Quantification of muscle glycogen distribution in Pompe disease using 7 Tesla ¹³C NMR spectroscopy. [PDF]

J Neurol Neurosurg Psychiatry
Beha GH, Stemmerik MG, Boer VO, van der Ploeg AT, van der Beek NA, Andersen H, Marsman A, Jacobsen LN, Theunissen MTM, Petersen ET, Vissing J.   +10 more
europepmc   +1 more source

Restoration of lysosomal membrane integrity in cell models of Pompe disease depends on fatty acid synthase and its product palmitic acid. [PDF]

Cell Mol Biol Lett
Le Guillou E, Segaloni A, Gadault A, Oliveira Dias C, Henneman NF, Su M, Nemazanyy I, Hifdi N, Nivet-Antoine V, Laemmerhofer M, Hnia K, Caillaud C, Panasyuk G.   +12 more
europepmc   +1 more source

Management of life-threatening anaphylaxis to enzyme replacement therapy in an infant with Pompe disease: a case report and literature review. [PDF]

Front Allergy
Zhou J, Wang Q, Zhang H, Wang Y, Wang Z, Yang F, Yang S.   +6 more
europepmc   +1 more source

Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease. [PDF]

Ther Adv Rare Dis
Hopkin RJ, Byrne BJ, Dimachkie MM, Kishnani PS, Mozaffar T, Roberts M, Schoser B, van der Beek NAME, van der Ploeg AT, Wenninger S, Brudvig J, Fox B, Holdbrook F, Jain V, Johnson F, Zhang J, Parenti G.   +16 more
europepmc   +1 more source

Clinical, pathological and genetic features as well as follow-up of 68 patients with late-onset Pompe disease: a single-center retrospective study. [PDF]

Front Nutr
Li D, Shi Y, Sun H, Zhang N, Su H, Li W, Zhao D, Wen B, Zhao Y.   +8 more
europepmc   +1 more source

Patient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis, Treatment, and Quality of Life. [PDF]

J Patient Exp
Gallarda BW, Leslie RA, Oyedepo F, Almeida C, Ampeh K, Gonzalez G, Schoser B.   +6 more
europepmc   +1 more source