Results 101 to 110 of about 5,969 (170)

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

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

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

Correction: 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

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

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

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

Atrioventricular Block in a Pompe Disease Patient Receiving Enzyme Replacement Therapy. [PDF]

JACC Case Rep
Akagi K, Baba S, Matsuda K, Yoshida T, Hirata T, Yokoyama A, Yoneda F, Fukumura F, Kume E, Takita J.   +9 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