Results 151 to 160 of about 8,804 (200)

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

Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience. [PDF]

Future Sci OA
Nguyen THT, Nguyen NTT, Chu HPT, Tran HNT, Duong NM, Lu YT, Tang HS, Tran DT, The Nguyen PN.   +8 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

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

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

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

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

Bone disease and osteoporosis associated with Pompe disease. [PDF]

JBMR Plus
Maxey L, Freibert H, Quinonez A, Malluche H, Rao M.   +4 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