Results 121 to 130 of about 6,173 (169)

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

Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease? [PDF]

BioDrugs
Faraguna MC, Lambregts DAM, Barzel I, Jacobs EH, Hoogeveen-Westerveld M, van der Beek NAME, Pijnappel WWMP, Gasperini S, Preijers T, van den Hout JMP, van der Ploeg AT.   +10 more
europepmc   +1 more source

Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease. [PDF]

JIMD Rep
Khazzeka A, Koch RL, Lim JA, Ward JD, Doxey J, Jeck WR, Kishnani PS.   +6 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

Anaesthetic Management of Advanced Late-Onset Pompe Disease: Challenges in a Major Abdominal Surgery. [PDF]

Cureus
Silva M, Santos MF, Cardoso G.
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

Enzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis.

Health Technol Assess
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

Pompe disease

, 2010
openaire   +1 more source

Lysosomal impairments in Pompe disease are associated with altered T cell homeostasis and intrinsic metabolic dysregulation

Costa-Verdera H, Gargaro M, Cagin U, Manni G, Scalisi G, Veron P, Barcelos ECS, Pieroni B, Mencarelli G, Ricciuti D, Nemazanyy I, Sanatine P, Wittenberghe Lv, Laforêt P, Gross D, Ronzitti G, Fallarino F, Mingozzi F.   +17 more
europepmc   +1 more source