Engineering of GlcNAc-1-phosphotransferase for production of highly phosphorylated lysosomal enzymes for enzyme replacement therapy [PDF]
, 2017 Several lysosomal enzymes currently used for enzyme replacement therapy in patients with lysosomal storage diseases contain very low levels of mannose 6-phosphate, limiting their uptake via mannose 6-phosphate receptors on the surface of the deficient ...
Doray, Balraj +3 more
core +3 more sources
Alimentary Pharmacology and Therapeutics, 2020 Patients with chronic pancreatitis or pancreatic cancer commonly develop exocrine pancreatic insufficiency, and may not be adequately treated with pancreatic enzyme replacement therapy (PERT).
C. Forsmark +5 more
semanticscholar +1 more source
Enzyme Replacement Therapy In Hypophosphatasia
Journal of the College of Physicians and Surgeons Pakistan, 2018 Hypophosphatasia (HPP) is associated with significant morbidity and mortality in pediatric patients. The disease also imposes a high disease-burden in adult-onset HPP. Asfotase alfa (AA) is the first-in-class, bone-targeted, enzyme- replacement therapy designated to reverse the skeletal mineralisation defects in HPP.
S. Ahmet, Uçaktürk +4 more
openaire +5 more sources
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 Genetics and Metabolism Reports, 2021 GM1-gangliosidosis is a lysosomal disease resulting from a deficiency in the hydrolase β-galactosidase (β-gal) and subsequent accumulation of gangliosides, primarily in neuronal tissue, leading to progressive neurological deterioration and eventually ...
Michael J. Przybilla +10 more
doaj +1 more source
Enzyme replacement therapy for Anderson-Fabry disease [PDF]
Cochrane Database of Systematic Reviews, 2016 Regina El Dib +6 more
openalex +2 more sources
Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy
Therapeutics and Clinical Risk Management, 2020 Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a progressive neurodegenerative disease that results in early-onset, severe, progressive, neurological disabilities, leading to death in late childhood or early adolescence. Management has relied on
N. Specchio, N. Pietrafusa, M. Trivisano
semanticscholar +1 more source
An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy. [PDF]
, 2016 BackgroundFollowing a drug manufacturing process change, safety/efficacy of agalsidase alfa were evaluated in enzyme replacement therapy (ERT)-naïve children with Fabry disease.MethodsIn an open-label, multicenter, Phase II study (HGT-REP-084; Shire), 14
Chang, Peter +7 more
core +2 more sources
Structure of purine nucleoside phosphorylase (DeoD) from Bacillus anthracis [PDF]
, 2005 Protein structures from the causative agent of anthrax (Bacillus anthracis) are being determined as part of a structural genomics programme. Amongst initial candidates for crystallographic analysis are enzymes involved in nucleotide biosynthesis, since ...
Blagova, E V +6 more
core +3 more sources
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 +5 more
core +1 more source