Results 11 to 20 of about 532,411 (388)

Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency

Вопросы современной педиатрии, 2020
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder ...
N. D. Vashakmadze, L. Namazova-Baranova, N. V. Zhurkova, E. Zakharova, G. Revunenkov, Tina V. Lobjanidze, Marina A. Babaikina   +6 more
semanticscholar   +3 more sources

Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports

Journal of Medical Case Reports, 2018
BackgroundIntravenous enzyme replacement therapy is a first-line therapy for Gaucher disease type 1, and substrate reduction therapy represents an oral treatment alternative.
D. Amato, M. A. Patterson
semanticscholar   +3 more sources

Fabry Disease: Switch from Enzyme Replacement Therapy to Oral Chaperone Migalastat: What Do We Know Today?

Healthcare, 2023
Fabry disease is a lysosomal storage disorder caused by the deficiency of the α-galactosidase-A enzyme. The result is the progressive accumulation of complex glycosphingolipids and cellular dysfunction.
F. Perretta, Sebastián Jaurretche
semanticscholar   +1 more source

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.

New England Journal of Medicine, 2022
Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross ...
Jennifer L. Cohen, P. Chakraborty, K. Fung-Kee-Fung, M. E. Schwab, D. Bali, S. Young, M. Gelb, Hamid Khaledi, A. DiBattista, S. Smallshaw, F. Moretti, Derek Wong, C. Lacroix, D. El Demellawy, Kyle C. Strickland, J. Lougheed, A. Moon‐Grady, B. Lianoglou, P. Harmatz, P. Kishnani, T. Mackenzie   +20 more
semanticscholar   +1 more source

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

Genetics in Medicine, 2021
To assess olipudase alfa enzyme replacement therapy for non–central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children.
G. Diaz, Simon A. Jones, M. Scarpa, K. Mengel, R. Giugliani, N. Guffon, Isabela Batsu, P. Fraser, Jing Li, Qi Zhang, Catherine Ortemann‐Renon   +10 more
semanticscholar   +1 more source

Current and Future Therapeutic Approaches of Exocrine Pancreatic Insufficiency in Children with Cystic Fibrosis in the Era of Personalized Medicine

Pharmaceutics, 2023
This review presents current updates of pancreatic enzyme replacement therapy in children with cystic fibrosis based on literature published in the last decade and some special considerations regarding pancreatic enzyme replacement therapy in the era of ...
Mirela-Elena Ritivoiu, Cristina Manuela Drăgoi, Dumitru Matei, Iustina Violeta Stan, Alina Crenguţa Nicolae, Mihai Craiu, Ion-Bogdan Dumitrescu, Alina Angelica Ciolpan   +7 more
doaj   +1 more source

A systematic review of economic evaluations of enzyme replacement therapy in Lysosomal storage diseases

Cost Effectiveness and Resource Allocation, 2022
Objective The objective of this paper is to assess the economic profile of enzyme replacement therapy (ERT) to symptomatic patients with Pompe, Fabry, Gaucher disease and Lysosomal acid lipase (LAL) deficiency.
E. Katsigianni, P. Petrou
semanticscholar   +1 more source

Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report

Journal of Medical Case Reports, 2022
Background Mucopolysaccharidosis VI, or Maroteaux–Lamy disease, is an autosomal recessive disease characterized by deficiency of the enzyme arylsulfatase B in the lysosomal catabolism of glycosaminoglycans.
Isadora Andrade, River Ribeiro, Zumira A. Carneiro, Roberto Giugliani, Catarina Pereira, Claudia Cozma, Daniel Grinberg, Lluïsa Vilageliu, Charles M. Lourenco   +8 more
doaj   +1 more source

Case Report: Mucopolysaccharidosis Type I Treatment With α-L-Iduronidase Replacement Therapy

Frontiers in Pediatrics, 2022
Mucopolysaccharidosis is a rare disease and can be divided into seven different subtypes, according to the affected enzyme. Mucopolysaccharidosis type I, the first subtype discovered and reported, mainly affects the in vivo storage of degraded sugar. The
Ying Li, Deyun Liu, Yue Yu
doaj   +1 more source

Erythrocytes as Carriers of Therapeutic Enzymes. [PDF]

, 2020
Therapeutic enzymes are administered for the treatment of a wide variety of diseases. They exert their effects through binding with a high affinity and specificity to disease-causing substrates to catalyze their conversion to a non-noxious product, to ...
Bax, BE
core   +1 more source