Results 41 to 50 of about 496,759 (383)

Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients

Neuropediatrics, 2020
Intracerebroventricular enzyme replacement therapy (ICV-ERT) for CLN2 disease represents the first approved treatment for neuronal ceroid lipofuscinosis (NCL) diseases.
C. Schwering, G. Kammler, E. Wibbeler, M. Christner, J. Knobloch, M. Nickel, J. Denecke, M. Baehr, A. Schulz   +8 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.
Erica Daina, David G. Warnock, Giuseppe Remuzzi, Michael West   +3 more
openaire   +3 more sources

Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report [PDF]

, 2019
We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting in cholesteryl ester accumulation in
Bobbert, Thomas, Demuth, Ilja, Haberbosch, Linus, Hollstein, Tim, Kassner, Ursula, Soll, Dominik, Spira, Dominik, Spranger, Joachim, Steinhagen-Thiessen, Elisabeth   +8 more
core   +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

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, Brannigan, J A, Fogg, M J, Grenha, R, Levdikov, V M, Wilkinson, A.J., Wilson, K S   +6 more
core   +3 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
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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

Novel Enzyme Replacement Therapies for Neuropathic Mucopolysaccharidoses [PDF]

International Journal of Molecular Sciences, 2020
Although the advent of enzyme replacement therapy (ERT) for mucopolysaccharidoses (MPS) has paved the way for the treatment for these hereditary disorders, the blood brain barrier (BBB) has prevented patients with MPS involving the central nervous system (CNS) from benefitting from ERT.
Yuji Sato, Torayuki Okuyama
openaire   +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, Di Marzio, Luisa, Hanieh, PATRIZIA NADIA, Marianecci, Carlotta, Paolino, Donatella, Rinaldi, Federica   +5 more
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Lentivector Transduction Improves Outcomes Over Transplantation of Human HSCs Alone in NOD/SCID/Fabry Mice [PDF]

, 2012
Fabry disease is a lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal A) activity that results in progressive globotriaosylceramide (Gb(3)) deposition.
Au, Bryan C. Y., Fan, Xin, Medin, Jeffrey A, Mizue, Nobuo, Pacienza, Natalia Alejandra, Takenaka, Toshihiro, Wang, James C. M., Yoshimitsu, Makoto   +7 more
core   +1 more source