Results 131 to 140 of about 8,917 (217)

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

Real-world evidence study finds no new-onset diabetes or drug-related hyperglycemia in Pompe disease patients treated with avalglucosidase alfa

Alexandra Dumitriu, Ann Lucas, Raffaella Colzani   +2 more
openalex   +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

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

Modulation of mTOR signaling as a strategy for the treatment of Pompe disease

, 2017
Jeong‐A Lim, Lishu Li, Orian S. Shirihai, Kyle Trudeau, Rosa Puertollano, Nina Raben   +5 more
openalex   +1 more source

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing [PDF]

, 2016
Sébastien Lévesque, Christiane Auray‐Blais, Elaine Gravel, Michel Boutin, Laura Dempsey-Nunez, Pierre‐Étienne Jacques, Sébastien Chénier, Sandrine Larue, Marie‐France Rioux, Walla Al‐Hertani, Amélie Nadeau, Jean Mathieu, Bruno Maranda, Valérie Désilets, Paula J. Waters, Joan Keutzer, Stephanie Austin, Priya S. Kishnani   +17 more
openalex   +1 more source

Pompe Disease: A Case Presentation

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

Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease. [PDF]

EBioMedicine
Regmi N, Abar B, Lim JA, Kenney-Jung D, Malinzak M, Hagarty-Waite KA, Jones KA, Jung SH, Stiles AR, Koch RL, Kishnani PS.   +10 more
europepmc   +1 more source

Atg5flox-Derived Autophagy-Deficient Model of Pompe Disease: Does It Tell the Whole Story? [PDF]

, 2017
Jeong‐A Lim, Hossein Zare, Rosa Puertollano, Nina Raben   +3 more
openalex   +1 more source