Results 141 to 150 of about 8,917 (217)

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

Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study. [PDF]

Eur J Neurol
Chitimus DM, Tard C, Fournier M, Bouhour F, Béhin A, Salort-Campana E, Lagrange E, Kaminsky AL, Magot A, Beltran S, Noury JB, Magy L, Solé G, Renard D, Spinazzi M, Demurger F, Cintas P, Nadaj-Pakleza A, Deibener-Kaminsky J, Bassez G, Taouagh N, Arrassi A, Lefeuvre C, Attarian S, Hamroun D, Laforêt P, for French Pompe study group.   +26 more
europepmc   +1 more source

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

Latest Advancements in Treatment Options for Infantile-Onset Pompe Disease: A Comprehensive Narrative Review. [PDF]

Clin Med Insights Pediatr
Khan M, Ibrahim M, Riaz F, Awan Z, Zulfiqar E, Kumar A, Al Sakini AS, Khan TM, Al-Shammari AS.   +8 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

Challenges and decisions at the start of Pompe disease treatment: case report

Camila Irini Oliveira Perivolaris, Melissa Pereira de Oliveira, Maria Izabel Alves Rodrigues, Fernanda Broch, Giovana Ribeiro   +4 more
openalex   +1 more source

Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRI

, 2016
Katja Mogalle, Adria Perez‐Rovira, Pierluigi Ciet, Stephan C.A. Wens, Pieter A. van Doorn, Harm A.W.M. Tiddens, Ans T. van der Ploeg, Marleen de Bruijne   +7 more
openalex   +2 more sources

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

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