Results 171 to 180 of about 22,388 (216)

Management of hypersensitivity in a patient with late-onset Pompe disease experiencing recurrent infusion-related reactions. [PDF]

J Neurol
Mendelsohn DH, Garcia-Angarita N, Hahn A, Schoser B, Wenninger S.   +4 more
europepmc   +1 more source

Comparing the efficacy of cipaglucosidase alfa plus miglustat with alglucosidase alfa for late-onset Pompe disease: an expanded network meta-analysis utilizing patient-level and aggregate data. [PDF]

J Comp Eff Res
Fu S, Hummel N, Shohet S, Johnson N, MacCulloch A, Castelli J, Kerr W, Fox B, Gielen V.   +8 more
europepmc   +1 more source

Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience. [PDF]

Genet Med
Regmi N, Kenney-Jung D, Stafford G, Malinzak M, Spiridigliozzi GA, Boggs T, Koch RL, Smith PB, Case LE, Young SP, Jones HN, Kishnani PS.   +11 more
europepmc   +1 more source

Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease. [PDF]

Genet Med Open
Desai AK, Rodriguez-Rassi E, Parikh S, Russo RS, Kronn D, Hamm JA, Chang IJ, Ortiz D, McPheron M, Lydigsen H, DeArmey S, Young SP, Kishnani PS.   +12 more
europepmc   +1 more source

Determination of the Epitopes of Alpha-Glucosidase Anti-Drug Antibodies in Pompe Disease Patient Plasma Samples. [PDF]

Antibodies (Basel)
Petrotchenko EV, Hahn A, Borchers CH.
europepmc   +1 more source

Extensive digital health technology assessment detects subtle motor impairment in mild and asymptomatic Pompe disease. [PDF]

Sci Rep
Pilotto A, Labella B, Rizzardi A, Zatti C, Trasciatti C, Hansen C, Romijnders R, Geritz J, Caria F, Risi B, Damioli S, Piccinelli SC, Olivieri E, Ferullo L, Poli L, Maetzler W, Padovani A, Filosto M.   +17 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

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Pompe's disease

The Lancet, 2008
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal glycogen storage.
Ans T, van der Ploeg, Arnold J J, Reuser
exaly   +7 more sources