Results 81 to 90 of about 6,173 (169)

Identification of alterations of immunometabolism associated with Pompe disease. [PDF]

Cell Mol Life Sci
Costa-Verdera H, Gargaro M, Cagin U, Manni G, Scalisi G, Veron P, Silva Barcelos EC, Pieroni B, Mencarelli G, Ricciuti D, Nemazanyy I, Sanatine P, van Wittenberghe L, Laforêt P, Gross DA, Ronzitti G, Fallarino F, Mingozzi F.   +17 more
europepmc   +1 more source

Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations. [PDF]

Eur J Neurol
Theunissen MTM, Hayat Z, Bouhour F, van den Hout JMP, Noury JB, Lagrange E, Jouy A, Taouagh N, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME.   +11 more
europepmc   +1 more source

A roadmap for a patient-centred approach to Pompe disease management. [PDF]

J Neurol
Schoser B, Domínguez-González C, Laforet P, Hahn A, Gissen P, Kostera-Pruszczyk A, Thalmeier A, Vissing J.   +7 more
europepmc   +1 more source

Cost-Effectiveness of Newborn Screening for Infantile-Onset Pompe Disease in Japan. [PDF]

Int J Neonatal Screen
Konomura K, Tanaka M, Tajima G, Hoshino E.   +3 more
europepmc   +1 more source

Epigenetic modulation of the gut-muscle axis in pompe disease: Microbiota fingerprints to cellular and molecular pathomechanisms. [PDF]

Mol Metab
Venezia M, Russo M, Colomba P, Zizzo C, Vinci M, Marsana EM, D'Errico A, Giacalone I, Duro G, Moschetti M.   +9 more
europepmc   +1 more source

TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients. [PDF]

J Transl Med
Damiano C, Tarallo A, Strollo S, Minopoli N, Valanzano A, Assunto A, Tuzzi MR, Brunetti-Pierri N, Ballabio A, Sorrentino NC, Parenti G.   +10 more
europepmc   +1 more source

Rhizobium radiobacter bloodstream infection associated with long-term central venous access in an infant with Pompe disease. [PDF]

Infez Med
Cuccia A, Albano C, Garbo V, Venuti L, Boncori G, Linares G, Saporito L, Falletta F, Colomba C.   +8 more
europepmc   +1 more source

Comprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions. [PDF]

Front Neurol
Li G.
europepmc   +1 more source

Identification of miRNAs Associated with Infantile-Onset Pompe Disease. [PDF]

Mol Syndromol
Bayrak H, Tosun F.
europepmc   +1 more source

Mapping glycogen accumulation and treatment effect in Pompe disease with saturation transfer MRI. [PDF]

Transl Res
Zeng Q, Li Y, Timm D, Johnson T, Mehta N, Martin L, Fox B, van Zijl PCM, Walter GA, Rosenberg JT, Kooi CWV, Corti M, Gentry MS, Sun RC, Byrne BJ, Yadav NN.   +15 more
europepmc   +1 more source