Results 21 to 30 of about 22,388 (216)
Public support for neonatal screening for Pompe disease, a broad-phenotype condition
Orphanet Journal of Rare Diseases, 2012 Background Neonatal screening for Pompe disease has been introduced in Taiwan and a few U.S. states, while other jurisdictions including some European countries are piloting or considering this screening. First-tier screening flags both classic infantile
Weinreich Stephanie +8 more
doaj +1 more source
Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease
Communications Biology, 2021 Wang et al. describe the development of a 3D in vitro model of human skeletal muscle that recapitulates the pathophysiology of Pompe disease. They further define a Pompe disease-specific transcriptional signature, confirm its presence in the Pompe ...
Jason Wang +9 more
doaj +1 more source
Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease [PDF]
, 2014 Background: Infantile Pompe disease is a rare metabolic disease. Patients generally do not survive the first year of life. Enzyme replacement therapy (ERT) has proven to have substantial effects on survival in infantile Pompe disease.
Hakkaart-van Roijen, L. (Leona) +5 more
core +2 more sources
Molecular Therapy: Methods & Clinical Development, 2015 Pompe disease is an autosomal recessive inherited metabolic disease caused by deficiency of acid α-glucosidase (GAA). Glycogen accumulation is seen in the affected organ such as skeletal muscle, heart, and liver.
Yohei Sato +8 more
doaj +1 more source
A conceptual disease model for adult Pompe disease [PDF]
, 2015 __Background:__ Studies in orphan diseases are, by nature, confronted with small patient populations, meaning that randomized controlled trials will have limited statistical power.
Güngör, D. (Deniz) +6 more
core +1 more source
Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus
Frontiers in Neurology, 2021 Background: Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage disorder.
Farzad Fatehi +14 more
doaj +1 more source
Enzyme replacement therapies: What is the best option? [PDF]
, 2018 Despite many beneficial outcomes of the conventional enzyme replacement therapy (ERT), several limitations such as the high-cost of the treatment and various inadvertent side effects including the occurrence of an immunological response against the ...
Barar, Jaleh +4 more
core +2 more sources
The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan
International Journal of Neonatal Screening, 2020 Pompe disease Newborn screening (NBS) aims at diagnosing patients with infantile-onset Pompe disease (IOPD) early enough so a timely treatment can be instituted.
Shu-Chuan Chiang +4 more
doaj +1 more source
Cells, 2023 Pompe disease is a rare genetic metabolic disorder caused by mutations in acid-alpha glucoside (GAA) leading to pathological lysosomal glycogen accumulation associated with skeletal muscle weakness, respiratory difficulties and cardiomyopathy, dependent ...
Marlena Rohm +8 more
doaj +1 more source
Hypoglossal Neuropathology and Respiratory Activity in Pompe Mice [PDF]
, 2011 Pompe disease is a lysosomal storage disorder associated with systemic deficiency of acid α-glucosidase (GAA). Respiratory-related problems in Pompe disease include hypoventilation and upper airway dysfunction.
Kun-Ze Lee +8 more
core +2 more sources