Results 101 to 110 of about 22,388 (216)

Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature [PDF]

, 2019
Pompe disease (PD) is a rare neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase. There are three forms of PD depending on the age at onset and clinical severity.
Ciardi, Gianluca, Corrado, Bruno, Servodio Iammarrone, Clemente   +2 more
core   +1 more source

Fatigue: an important feature of late-onset Pompe disease [PDF]

, 2007
Objective: To investigate the prevalence and severity of fatigue in adult patients with Pompe disease. Methods: The Fatigue Severity Scale (FSS) was assessed in an international population of 225 adults with Pompe disease, a metabolic disorder presenting
M. L. C. Hagemans, S. P. M. Schie, A. C. J. W. Janssens, P. A. Doorn, A. J. J. Reuser, A. T. Ploeg, Bardwell, Buck, Chaudhuri, Demey, Dimeo, Dittner, Flachenecker, Flachenecker, Garssen, Hagemans, Hagemans, Hagemans, Herlofson, Horemans, Kleinman, Krupp, Matsuishi, Mellies, Merkies, Mobarhan, Pellegrini, Petajan, Sivak, Van den Hout, Van der Ploeg, Winkel, Winkel, Wokke, Zigmond   +34 more
core   +1 more source

Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features

Folia Neuropathologica, 2016
Introduction: The clinical and histological presentations of the adult form of Pompe disease may be atypical. In such cases, identifying histological signs that point to the diagnosis would be crucial to avoid a delay in care.
Claire Dolfus, Jean-Philippe Simon, Gérard Landemore, François Leroy, Françoise Chapon   +4 more
doaj   +1 more source

The Musculoskeletal System in Pompe Disease: Pathology, consequences and treatment options [PDF]

, 2014
__Abstract__ Pompe disease, also known as glycogen storage disorder type II and acid maltase deficiency, is a rare metabolic myopathy. It is caused by a deficiency of lysosomal acid α-glucosidase which results in the accumulation of glycogen in ...
Berg, L.E.M. (Linda) van den
core  

Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up [PDF]

, 2016
Background: Pompe disease is an inheritable metabolic disorder for which enzyme replacement therapy (ERT) has been available since 2006. Effects of ERT have been shown on distance walked, pulmonary function and survival.
Doorn, P.A. (Pieter) van, Güngör, D. (Deniz), Kanters, T.A. (Tim), Kruijshaar, M.E. (Michelle), Ploeg, A.T. (Ans) van der, Plug, I. (Iris), Reuser, A.J.J. (Arnold), Rizopoulos, D. (Dimitris), Wens, S.C.A. (Stephan)   +8 more
core   +1 more source

Clinical and Genetic Aspects of Pompe Disease: A Review of Current Knowledge

Quality in Sport
: Introduction:  Pompe disease is classified as a metabolic myopathy and is a glycogen storage disorder inherited in an autosomal recessive manner due to a mutation in the gene encoding the enzyme α-glucosidase.
Agata Konopka, Milena Sitkiewicz, Zuzanna Szczepaniak, Natalia Wdowiak, Kinga Adamska   +4 more
doaj   +1 more source

Drug delivery in overcoming the blood-brain barrier: role of nasal mucosal grafting [PDF]

, 2017
The blood–brain barrier (BBB) plays a fundamental role in protecting and maintaining the homeostasis of the brain. For this reason, drug delivery to the brain is much more difficult than that to other compartments of the body. In order to bypass or cross
Carafa, Maria, Di Marzio, Luisa, Hanieh, PATRIZIA NADIA, Marianecci, Carlotta, Paolino, Donatella, Rinaldi, Federica   +5 more
core   +1 more source

Type 1 Diabetes: An In-Depth Review of Pathogenesis with a Focus on the Role of Physical Activity and Dietary Interventions

Quality in Sport
Introduction:  Pompe disease is classified as a metabolic myopathy and is a glycogen storage disorder inherited in an autosomal recessive manner due to a mutation in the gene encoding the enzyme α-glucosidase.
Agata Konopka, Weronika Smołka, Marcin Skrzypczyk, Leon Smółka   +3 more
doaj   +1 more source

Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness

Journal of Pediatric Rehabilitation Medicine, 2014
PURPOSE: Respiratory muscle weakness is a primary therapeutic challenge for patients with infantile Pompe disease. We previously described the clinical implementation of a respiratory muscle training (RMT) regimen in two adults with late-onset Pompe ...
Harrison N. Jones, Kelly D. Crisp, Tronda Moss, Katherine Strollo, Randy Robey, Jeffrey Sank, Michelle Canfield, Laura E. Case, Leslie Mahler, Richard M. Kravitz, Priya S. Kishnani   +10 more
doaj   +1 more source

No Difference in Health Related Quality of Life Between Therapeutic Options for Type 1 Gaucher Disease [PDF]

, 2016
Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapy (ERT).
Wagner, Victoria
core   +1 more source