Results 51 to 60 of about 532,411 (388)

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

Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation. [PDF]

, 2020
BackgroundMucopolysaccharidosis I (MPS IH) is a lysosomal storage disease treated with hematopoietic cell transplantation (HCT) because it stabilizes cognitive deterioration, but is insufficient to alleviate all somatic manifestations.
A Ghosh, AR Pal, ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories., B Link, Bradley S. Miller, C Peters, C Peters, Chester B. Whitley, DA Stevenson, E Shapiro, E Yasuda, E. Oussoren, EA Braunlin, EA Braunlin, ED Kakkis, EJ Langereis, Elise Northrop, Elizabeth Braunlin, Ellen B. Fung, Ellen Fung, G Malm, I Visigalli, Jakub Tolar, JB Eisengart, JE Wraith, JJ Boelens, JR Hobbs, JS Weisstein, Julie B Eisengart, Julie B. Eisengart, KJ Bjoraker, Kyle Rudser, L Lopez, LA Clarke, LE Polgreen, LE Polgreen, LE Polgreen, Lynda E. Polgreen, M Aldenhoven, M Sifuentes, MA Saif, MD Poe, NE Taylor, NJ Rodgers, Paul J. Orchard, RL Washington, S Laraway, Simon A. Jones, SS Grewal, Troy C. Lund, Weston P. Miller, Y Xue   +51 more
core   +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

Enzyme Replacement Therapy for Murine Hypophosphatasia [PDF]

Journal of Bone and Mineral Research, 2008
Abstract Introduction: Hypophosphatasia (HPP) is the inborn error of metabolism that features rickets or osteomalacia caused by loss-of-function mutation(s) within the gene that encodes the tissue-nonspecific isozyme of alkaline phosphatase (TNALP).
José Luis, Millán, Sonoko, Narisawa, Isabelle, Lemire, Thomas P, Loisel, Guy, Boileau, Pierre, Leonard, Svetlana, Gramatikova, Robert, Terkeltaub, Nancy Pleshko, Camacho, Marc D, McKee, Philippe, Crine, Michael P, Whyte   +11 more
openaire   +2 more sources

Arterial pathology in canine mucopolysaccharidosis-I and response to therapy. [PDF]

, 2011
Mucopolysaccharidosis-I (MPS-I) is an inherited deficiency of α-L-iduronidase (IdU) that causes lysosomal accumulation of glycosaminoglycans (GAG) in a variety of parenchymal cell types and connective tissues.
Dickson, Patricia I, Ellinwood, N Matthew, Kakkis, Emil D, Lyons, Jeremiah A, McEntee, Michael F, Passage, Merry B, Wall, Jonathan S   +6 more
core   +3 more sources

Enzyme Replacement Therapy Clears Gb3 Deposits from a Podocyte Cell Culture Model of Fabry Disease but Fails to Restore Altered Cellular Signaling.

Cellular Physiology and Biochemistry, 2019
BACKGROUND/AIMS Fabry disease (FD) is a lysosomal storage disorder characterized by impaired alpha-galactosidase A (α-Gal A) enzyme activity due to mutations in the GLA gene. While virtually all tissues are affected, renal damage is particularly critical
Fabian Braun, Linda Blomberg, S. Brodesser, M. Liebau, B. Schermer, T. Benzing, C. Kurschat   +6 more
semanticscholar   +1 more source

Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report

Case Reports, 2019
Introduction: Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumu­lation mainly in cardiac and skeletal muscles.
Thomas Torres-Cuenca, Jorge Arturo Díaz-Ruíz, Fernando Ortiz-Corredor   +2 more
doaj   +1 more source

Modifying enzyme replacement therapy – A perspective

Journal of Cellular and Molecular Medicine, 2022
AbstractSeveral diseases are caused by the lack of functional proteins, including lysosomal storage diseases or haemophilia A and B. Patients suffering from one of these diseases are treated via enzyme replacement therapies to restore the missing protein.
openaire   +3 more sources

Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy. [PDF]

, 2017
Previous cross-sectional studies reported a high prevalence of ascending aorta dilations/aneurysms in male adults with Fabry disease, independently of cardiovascular risk factors.
Barbey, F., Dormond, O., Hajdu, S., Monney, P., Qanadli, S.D., Schwitter, J., Tran, C.   +6 more
core   +1 more source

Peptide‐based ligand antagonists block a Vibrio cholerae adhesin

FEBS Letters, EarlyView.
The structure of a peptide‐binding domain of the Vibrio cholerae adhesin FrhA was solved by X‐ray crystallography, revealing how the inhibitory peptide AGYTD binds tightly at its Ca2+‐coordinated pocket. Structure‐guided design incorporating D‐amino acids enhanced binding affinity, providing a foundation for developing anti‐adhesion therapeutics ...
Mingyu Wang, Grace Du, Charity Yongo‐Luwawa, Angelina Lu, Brett Kinrade, Kim Munro, Karl E. Klose, William D. Lubell, Peter Davies, Shuaiqi Guo   +9 more
wiley   +1 more source