Results 21 to 30 of about 532,411 (388)

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

International Journal of Molecular Sciences, 2020
The aim of this review is to summarize the evidence on efficacy, effectiveness and safety of intravenous enzyme replacement therapy (ERT) available for mucopolysaccharidoses (MPSs) I, II, IVA, VI and VII, gained in phase III clinical trials and in ...
R. Parini, F. Deodato
semanticscholar   +1 more source

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. [PDF]

, 2015
Trial designThis analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial.MethodsMales
An Haack, Kristina, Bichet, Daniel G, Bénichou, Bernard, Clarke, Lorne A, Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, Hopkin, Robert J, Mauer, Michael, Najafian, Behzad, Ramaswami, Uma, Scott, C Ronald, Shankar, Suma P, Thurberg, Beth L, Tylki-Szymańska, Anna, Tøndel, Camilla, Wijburg, Frits A   +17 more
core   +12 more sources

Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis

Autophagy, 2020
CTSD (cathepsin D) is one of the major lysosomal proteases indispensable for the maintenance of cellular proteostasis by turning over substrates of endocytosis, phagocytosis and autophagy. Consequently, CTSD deficiency leads to a strong impairment of the
A. R. Marques, Alessandro Di Spiezio, Niklas Thießen, Lina Schmidt, J. Grötzinger, R. Lüllmann-Rauch, M. Damme, Steffen E. Storck, C. Pietrzik, J. Fogh, Julia Bär, M. Mikhaylova, M. Glatzel, M. Bassal, U. Bartsch, P. Saftig   +15 more
semanticscholar   +1 more source

Precocious puberty in patients with Pompe disease

Frontiers in Endocrinology, 2023
IntroductionThe life expectancy of Pompe disease patients has increased due to improved neonatal screening and enzyme replacement therapy. Nevertheless, the potential effect of frequent medical device exposure on pubertal development in these patients is
Meng-Ju Melody Tsai, Meng-Ju Melody Tsai, Mei-Huei Chen, Mei-Huei Chen, Yin-Hsiu Chien, Yin-Hsiu Chien, Yi-Ching Tung   +6 more
doaj   +1 more source

Effect of asfotase alfa in the treatment of hypophosphatasia- A systematic review

Journal of Pharmacy and Bioallied Sciences, 2023
Hypophosphatasia (HPP) is a life-threatening disease that occurs due to the mutation of the TNSALP (Tissue nonspecific isoenzyme of alkaline phosphatase) encoding gene. There is no approved treatment for Hypophosphatasia.
N Jaswanthi, R Sindhu, P Nimmy, D Prabu, M RajMohan, V V Bharathwaj, Dinesh Dhamodhar, S Sathiyapriya   +7 more
doaj   +1 more source

Pancreatic exocrine insufficiency and pancreatic enzyme replacement therapy in patients with advanced pancreatic cancer: A systematic review and meta-analysis

United European Gastroenterology journal, 2020
Background Pancreatic cancer is the fourth leading cause of cancer mortality. Most patients are diagnosed with advanced pancreatic cancer, either at locally advanced or metastatic stages, and have a high rate of malnutrition and weight loss which are ...
D. D. L. Iglesia, B. Avci, M. Kiriukova, N. Panic, M. Bozhychko, V. Șandru, E. de-Madaria, G. Capurso   +7 more
semanticscholar   +1 more source

Successful Pregnancy Outcome in Patient with Pompe Disease Despite Discontinuation of Enzyme Replacement Therapy. [PDF]

Eur J Case Rep Intern Med
Leskovar Lemešić D, Perica D, Zlopaša G, Knezić Frković B, Šućur N, Reiner Ž, Pećin I.   +6 more
europepmc   +3 more sources

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency

Orphanet Journal of Rare Diseases, 2020
Background Lysosomal acid lipase deficiency (LALD) is an autosomal recessive inborn error of lipid metabolism characterized by impaired lysosomal hydrolysis and consequent accumulation of cholesteryl esters and triglycerides.
Amanda Barone Pritchard, Alanna Strong, Can Ficicioglu   +2 more
doaj   +1 more source

Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy. [PDF]

PLoS ONE, 2015
We developed an immunochromatography-based assay for detecting antibodies against recombinant α-galactosidase A proteins in serum. The evaluation of 29 serum samples from Fabry patients, who had received enzyme replacement therapy with agalsidase alpha ...
Sachie Nakano, Takahiro Tsukimura, Tadayasu Togawa, Toya Ohashi, Masahisa Kobayashi, Katsuyoshi Takayama, Yukuharu Kobayashi, Hiroshi Abiko, Masatsugu Satou, Tohru Nakahata, David G Warnock, Hitoshi Sakuraba, Futoshi Shibasaki   +12 more
doaj   +1 more source

Pulmonary outcome measures in long‐term survivors of infantile Pompe disease on enzyme replacement therapy: A case series

Pediatric Pulmonology, 2020
To report the respiratory function of school‐aged children with infantile Pompe disease (IPD) who started enzyme replacement therapy (ERT) in infancy and early childhood.
Mai K. ElMallah, Ankit K. Desai, Erica B Nading, Stephanie M. Dearmey, R. Kravitz, Priya S Kishnani   +5 more
semanticscholar   +1 more source