Results 81 to 90 of about 460,260 (336)

Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis [PDF]

, 2019
Agalsidasa alfa; Teràpia de reemplaçament enzimàtic; Malaltia de FabryAgalsidasa alfa; Terapia de reemplazo de enzimas; Enfermedad de FabryAgalsidase alfa; Enzyme replacement therapy; Fabry diseasePurpose: Following the publication of 5-year agalsidase ...
Beck, Michael, Kampmann, Christoph, Ramaswami, Uma, Botha, Jaco, Hughes, Derralynn, Pintos Morell, Guillem   +5 more
core   +1 more source

Invisible burden of COVID-19: enzyme replacement therapy disruptions [PDF]

, 2021
Objectives: Lysosomal storage diseases (LSD) constitute an important group of metabolic diseases, consisting of approximately 60 disorders. In some types of lysosomal diseases, enzyme replacement therapy (ERT) is administered intravenously in weekly or ...
Erdal, İzzet, Çıkı, Kısmet, Akar, Halil Tuna, Sivri, Hatice Serap, Dursun, Ali, Kahraman, Ayça Burcu, Tokatlı, AYŞEGÜL, Yıldız, YILMAZ   +7 more
core   +1 more source

Safety and effectiveness of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: Post-marketing surveillance in Japan.

Molecular Genetics and Metabolism, 2019
Fabry disease is a rare X-linked inherited multisystem disorder resulting from deficiency of the lysosomal enzyme alpha-galactosidase A. Currently, specific therapies, including enzyme replacement therapies, are available for Fabry disease, but clinical ...
Hiroaki Sasa, M. Nagao, Koichi Kino
semanticscholar   +1 more source

Clinical performance of the urine‐based TERT promoter AbsoluteQ Digital PCR for non‐invasive detection of bladder cancer

Molecular Oncology, EarlyView.
A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel, Izabela Kubiak, Lena Rutkowska, Żaneta Kasprzyk, Łukasz Kępczyński, Michał Bednarek, Dariusz Sobieraj, Jacek Wilkosz, Piotr Kania, Adam Jędrzejczyk, Bogdan Kałużewski, Agnieszka Gach, Tadeusz Kałużewski   +12 more
wiley   +1 more source

Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease. [PDF]

, 2013
Glycogen storage disease type II is a rare multi-systemic disorder characterised by an intracellular accumulation of glycogen due a mutation in the acid alpha glucosidase (GAA) gene.
Hundsberger, Thomas, Rösler, Kai Michael, Rohrbach, Marianne, Kern, Lukas   +3 more
core   +1 more source

USP29‐regulated noncanonical stabilization of the hypoxia‐inducible factor‐α in aggressive prostate cancer

Molecular Oncology, EarlyView.
We identify USP29 as the only DUB mirroring CA9 expression, a marker of hypoxia and HIF pathway activation associated with PCA aggressiveness. USP29 stabilizes HIF‐1α and HIF‐2α via a noncanonical mechanism that is independent of PHD/pVHL activity yet relies on proteasomal regulation, establishing USP29 as a previously unrecognized regulator of hypoxic
Amelie S Schober, Leire Moreno‐Cugnon, Laura Martínez‐Pérez, Amaia Ercilla, Amaia Zabala‐Letona, Adrián Vicente‐Barrueco, Maider Fagoaga‐Eugui, Saioa Garcia‐Longarte, Blanca Calle‐Ciborro, Encarnación Pérez‐Andrés, Onintza Carlevaris, Sara Pozo, Isabel Mendizabal, Ugo Mayor, Arkaitz Carracedo, Violaine Sée, Edurne Berra   +16 more
wiley   +1 more source

Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder [PDF]

, 2003
Lysosomal storage disorders are collectively important because they cause significant morbidity and mortality. Patients can present with severe symptoms that include somatic tissue and bone pathology, developmental delay and neurological impairment ...
Kakavanos, R., Hopwood, J., Brooks, D.
core   +1 more source

A novel quinazolinone insulin receptor inhibitor and its synergy with an EGFR inhibitor in glucose‐driven glioblastoma

Molecular Oncology, EarlyView.
The novel styrylquinazolinone‐based molecule W1B effectively suppresses glioblastoma by inhibiting IGF1R and EGFR. In high‐glucose microenvironments driving tumor resistance, W1B acts synergistically with the EGFR inhibitor dacomitinib. This combination safely blocks compensatory survival signaling in zebrafish xenograft models. Showcasing promising in
Patryk Rurka, Wioleta Cieślik, Wojciech Płaziński, Katarzyna Stępnik, Anna Boguszewska‐Czubara, Elżbieta Kot, Robert Musioł, Mateusz Jasica, Anna Mrozek‐Wilczkiewicz, Katarzyna Malarz   +9 more
wiley   +1 more source

Early Enzyme Replacement Therapy Improves Hearing and Immune Defects in Adenosine Deaminase Deficient-Mice

Frontiers in Immunology, 2019
Background: Inherited defects in adenosine deaminase (ADA) cause severe immune deficiency, which can be corrected by ADA enzyme replacement therapy (ERT). Additionally, ADA-deficient patients suffer from hearing impairment.
Xiaobai Xu, Xiaobai Xu, Jaina Negandhi, Weixian Min, Michael Tsui, Michael Tsui, Martin Post, Martin Post, Robert V. Harrison, Robert V. Harrison, Robert V. Harrison, Eyal Grunebaum, Eyal Grunebaum, Eyal Grunebaum   +13 more
doaj   +1 more source

Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice. [PDF]

PLoS ONE, 2010
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), an enzyme that degrades keratan sulfate (KS). Currently no therapy for MPS IVA is available.
Melita Dvorak-Ewell, Dan Wendt, Chuck Hague, Terri Christianson, Vish Koppaka, Danielle Crippen, Emil Kakkis, Michel Vellard   +7 more
doaj   +1 more source