Results 111 to 120 of about 8,804 (200)

Neuromuscular Imaging and Phenotypical Variation in Pompe Disease [PDF]

, 2016
Pompe disease is a progressive metabolic myopathy. It is caused by a deficiency of the enzyme acid α-glucosidase and leads to glycogen accumulation, predominantly in skeletal muscle.
Wens, Stephan, Wens, S.C.A. (Stephan)
core  

Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database

Orphanet Journal of Rare Diseases
Background Pompe disease is a rare, severe genetic multisystem disorder. It was one of the first genetic muscle diseases to benefit from an innovative therapy—enzyme replacement therapy (ERT)—more than 15 years ago. Despite this progress, data on patient
Alicia Le Bras, Pascale De Lonlay, Shahram Attarian, Anaïs Brassier, Isabelle Durand-Zaleski, Pascal Laforêt, Pompe Study Group   +6 more
doaj   +1 more source

A Review of Treatment of Pompe Disease in Infants

, 2011
The glycogen storage disease type II (GSD-II), or Pompe disease, is due to the deficit of lysosomal glycogen degradation enzyme acid - glucosidase (GAA).
簡穎秀;胡務亮, CHIEN, YIN-HSIU;HWU, WUH-LIANG   +1 more
core  

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

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

Longitudinal Assessment of Muscle Involvement in Late-Onset Pompe Disease Using Quantitative MRI: A Prospective Cohort Study. [PDF]

J Cachexia Sarcopenia Muscle
De Lorenzo A, Forsting J, Froeling M, Güttsches AK, Enax-Krumova E, Kleefeld F, Öztürk M, Knieling F, Vorgerd M, Rehmann R, Ruck T, Schlaffke L.   +11 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