Results 41 to 50 of about 460,260 (336)

Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II

Molecular Therapy: Methods & Clinical Development, 2021
This open-label, phase 1/2 study (JMACCT CTR JMA-IIA00350) evaluated the efficacy and safety of intracerebroventricular idursulfase beta in patients with mucopolysaccharidosis II (MPS II). Herein, we report the 100-week results.
Joo-Hyun Seo, M. Kosuga, T. Hamazaki, H. Shintaku, T. Okuyama   +4 more
semanticscholar   +1 more source

Enzyme Replacement Therapy and Fabry Nephropathy [PDF]

Clinical Journal of the American Society of Nephrology, 2010
Involvement of the kidneys in Fabry disease ("nephropathy") occurs in male and female individuals. The majority of patients with progressive nephropathy will have significant proteinuria and develop progressive loss of kidney function, leading to ESRD.
David G, Warnock, Erica, Daina, Giuseppe, Remuzzi, Michael, West   +3 more
openaire   +2 more sources

Pancreatic Enzyme Replacement Therapy in hyperglycemic Male Rats

Kufa Journal for Veterinary Medical Sciences, 2020
The study was designed to evaluated exocrine pancreatic enzyme replacement therapy in hyperglycemic male rats induced by alloxan. A total of forty five adult male rats were use in this study, hyperglycemia was induce in thirty rats by single ...
Muhammad Ali Hameed Jalil, Nabeel M. N. Al-Sharafi   +1 more
doaj   +1 more source

Characterization and downstream mannose phosphorylation of human recombinant α-L-iduronidase produced in Arabidopsis complex glycan-deficient (cgl) seeds [PDF]

, 2013
This work was supported by a Wellcome Trust award to TMG.Mucopolysaccharidosis (MPS) I is a lysosomal storage disease caused by a deficiency of α-L-iduronidase (IDUA) (EC 3.2.1.76); enzyme replacement therapy is the conventional treatment for this ...
Brooks, Doug, Gloster, Tracey M., Vocadlo, D.J., Brooks, D., Kolarich, Daniel, Kermode, Allison R, Kermode, Allison R., Haselhorst, T., Qian, Y., Gloster, Tracey M, Qian, Yi, Gloster, Tracey, Kolarich, D., Haselhorst, Thomas, Packer, N.H., Pierce, Owen, He, X., von Itzstein, Mark, Gloster, T.M., Packer, Nicolle H., He, Xu, Pierce, O., Packer, Nicolle H, Vocadlo, David J, von Itzstein, M., Kermode, A.R., Vocadlo, David J.   +26 more
core   +1 more source

Improved Efficacy in a Fabry Disease Model Using a Systemic mRNA Liver Depot System as Compared to Enzyme Replacement Therapy

Molecular Therapy, 2019
Fabry disease is a lysosomal storage disorder caused by the deficiency of α-galactosidase A. Enzyme deficiency results in a progressive decline in renal and cardiac function, leading to cardiomyopathy and end-stage renal disease.
F. Derosa, L. Smith, Yinghua Shen, Y. Huang, Jing Pan, Hongsheng Xie, B. Yahalom, M. Heartlein   +7 more
semanticscholar   +1 more source

Enzyme Replacement Therapy Can Reverse Pathogenic Cascade in Pompe Disease

Molecular Therapy: Methods & Clinical Development, 2020
Pompe disease, a deficiency of glycogen-degrading lysosomal acid alpha-glucosidase (GAA), is a disabling multisystemic illness that invariably affects skeletal muscle in all patients.
N. Meena, E. Ralston, N. Raben, R. Puertollano   +3 more
semanticscholar   +1 more source

Study of enzyme replacement therapy for Gaucher Disease: comparative analysis of clinical and laboratory parameters at diagnosis and after two, five and ten years of treatment

Revista Brasileira de Hematologia e Hemoterapia, 2014
Objective: To evaluate the impact of enzyme replacement therapy for Gaucher Disease on clinical and laboratory parameters after two, five and ten years of treatment. Methods: Data were collected from patient records and analyzed using BioEstat software
Ana Maria Almeida Souza, Thiago Pimentel Muniz, Rafael Maciel Brito   +2 more
doaj   +1 more source

The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts.

Molecular Genetics and Metabolism, 2019
BACKGROUND Heterozygous females with Fabry disease have a wide range of clinical phenotypes depending on the nature of their mutation and their X-chromosome inactivation pattern; it is therefore important to examine outcomes of enzyme replacement therapy
D. Germain, M. Arad, A. Burlina, P. Elliott, B. Falissard, U. Feldt-Rasmussen, M. Hilz, D. Hughes, A. Ortiz, C. Wanner, F. Weidemann, M. Spada   +11 more
semanticscholar   +1 more source

Enzyme Replacement Therapy in the Treatment of Fabry Disease

罕见病研究, 2023
Fabry disease is an X-linked inherited lysosomal storage disease caused by the mutation of GLA gene that encodes α-galactosidase A (α-Gal A). GLA gene mutation causes the decline or deficiency in the activity of α-Gal A, leading to the accumulation of ...
YU Che, WANG Rong
doaj   +1 more source

Dental manifestations of hypophosphatasia in children and the effects of enzyme replacement therapy on dental status: A series of clinical cases

Clinical Case Reports, 2020
The most frequent dental signs of hypophosphatasia in children are premature loss of primary teeth, decrease in height of alveolar bone, and malocclusions.
L. Kiselnikova, E. Vislobokova, V. Voinova   +2 more
semanticscholar   +1 more source