Results 101 to 110 of about 6,173 (169)

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

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

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

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

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

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

In Thickness and in Health: Delayed-Onset Pompe Disease Resembling Hypertrophic Cardiomyopathy. [PDF]

Cureus
Lasam G, Lasam MKC.
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

Short-Term Intensive Avalglucosidase Alfa Regimen in Late-Diagnosed Infantile Pompe Disease: A Case Report. [PDF]

Reports (MDPI)
Gragnaniello V, Pozza A, Cazzorla C, Gueraldi D, Di Salvo G, Burlina AB.   +5 more
europepmc   +1 more source

Gastrointestinal manifestations and enzyme replacement therapy in late-onset Pompe disease: insights from a cross-sectional analysis. [PDF]

Orphanet J Rare Dis
Liu X, Li X, Yao X, Zhu G, Guo X, He W, Hu L, Yang G.   +7 more
europepmc   +1 more source