Results 91 to 100 of about 5,969 (170)

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

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

Cureus
Lasam G, Lasam MKC.
europepmc   +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

Safety of home administration of cipaglucosidase alfa plus miglustat in late-onset Pompe disease: results from multiple clinical trials. [PDF]

Ther Adv Rare Dis
Andersen H, Díaz-Manera J, Goker-Alpan O, Mozaffar T, Sitaraman Das S, Fox B, Amon F, O'Brien-Prince K, Goldman M, Holdbrook F, Jain V, Byrne BJ.   +11 more
europepmc   +1 more source

Pompe Disease: A Case Presentation

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

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

Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review. [PDF]

Front Immunol
Kishnani PS, Van Den Hout JMP, Hahn A, Kronn D, Chien YH, Han M, Heuterman J, Sparks S, Glen C, Daba N.   +9 more
europepmc   +1 more source

Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report. [PDF]

Mol Genet Metab Rep
Sharma A, Vashist M, Kaushik R, Rohilla G, Narwal S.   +4 more
europepmc   +1 more source

Results of orthodontic procedure in a patient with classic infantile Pompe disease. [PDF]

Ital J Pediatr
Grimaldi CM, D'Alessandro D, Faraguna MC, Boggio A, Caldara G, Barzaghi S, Pretese R, Crescitelli V, Gasperini S.   +8 more
europepmc   +1 more source