Results 141 to 150 of about 22,388 (216)

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

Pain in adult patients with Pompe disease [PDF]

, 2014
Güngör, D. (Deniz), Hanisch, F. (Frank), Karabul, N., Kruijshaar, M.E. (Michelle), Schober, A. (A.)   +4 more
core   +2 more sources

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

Cureus
Lasam G, Lasam MKC.
europepmc   +1 more source

First multicenter real-world analysis of switching to next-generation enzyme replacement therapies in late-onset Pompe disease. [PDF]

J Neurol
Mendelsohn DH, Rosenbohm A, Güttsches AK, Kornblum C, Knop KC, Fangerau T, Nguyen-Younossi N, Shahyrova G, Garcia-Angarita N, Schoser B, Wenninger S.   +10 more
europepmc   +1 more source

Muscle MRI in patients with dysferlinopathy: Pattern recognition and implications for clinical trialP [PDF]

, 2018
et al,, Harms, Matthew, Pestronk, Alan
core   +1 more source

Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis. [PDF]

JIMD Rep
Cohen JL, Beaman MM, Rodriguez-Rassi E, Stafford VG, Smith PB, Landstrom AP, Kishnani PS.   +6 more
europepmc   +1 more source

Molecular characterization of a novel synonymous variant in a Mexican patient with Pompe disease. [PDF]

Mol Genet Metab Rep
Alaez-Verson C, González-Domínguez CA, Sanchez IV, Sanchez LMS, Flores IN, Kazakova E, Garcia-Solorio J, Molina-Garay C, Flores-Lagunes LL, Duncker IM.   +9 more
europepmc   +1 more source

Measuring What Matters to Patients with Pompe Disease: A Review of Clinical Outcome Assessments for Capturing Treatment Benefits of Innovative Novel Therapies. [PDF]

Adv Ther
Rofail D, Ginchereau Sowell F, Williams B, Patel N, Karantzoulis S, Avbersek A.   +5 more
europepmc   +1 more source

An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease. [PDF]

Ital J Pediatr
Leo F, Barchi L, Russo G, Balestri E, Chesi E, Di Dio F, Garavelli L, Iughetti L, Gargano G.   +8 more
europepmc   +1 more source