Results 51 to 60 of about 249,219 (350)

Causal Therapies in Mucopolysaccharidoses: Enzyme Replacement Therapy [PDF]

Journal of Child Science, 2018
AbstractEnzyme replacement therapy (ERT) for mucopolysaccharidoses (MPS) is the treatment of choice for patients, since it specifically addresses the underlying cause of the disease. Intravenous weekly infusions of recombinant enzymes for MPS I, II, IVA, VI, and VII have proven to be safe and efficacious for somatic symptoms.
Adriana M. Montaño, Ara Vartanyan
openaire   +2 more sources

Pancreatic exocrine insufficiency after bariatric surgery [PDF]

, 2017
Morbid obesity is a lifelong disease, and all patients require complementary follow-up including nutritional surveillance by a multidisciplinary team after bariatric procedures.
Arnelo, Urban, Haas, Stephan L., Löhr, J. -Matthias, Martin, Lena, Rutkowski, Wiktor, Thorell, Anders, Valente, Roberto, Vujasinovic, Miroslav   +7 more
core   +1 more source

Microbial exopolysaccharide production by polyextremophiles in the adaptation to multiple extremes

FEBS Letters, EarlyView.
Polyextremophiles are microorganisms that endure multiple extreme conditions by various adaptation strategies that also include the production of exopolysaccharides (EPSs). This review provides an integrated perspective on EPS biosynthesis, function, and regulation in these organisms, emphasizing their critical role in survival and highlighting their ...
Tracey M Gloster, Ebru Toksoy Öner
wiley   +1 more source

Difficulties Associated with Enzyme Replacement Therapy for Mucopolysaccharidoses

Turkish Archives of Pediatrics, 2021
Mucopolysaccharidoses are extremely rare, progressive, often severe multisystem disorders, some of which are managed by weekly intravenous enzyme replacement therapy. This study aimed to determine the difficulties faced by the patients with mucopolysaccharidosis and their families due to enzyme replacement therapy.A questionnaire about demographics ...
Yılmaz Yıldız, H. Serap Sivri
openaire   +3 more sources

RAD50 missense variants differentially affect the DNA damage response and mitotic progression

FEBS Letters, EarlyView.
RAD50 incorporates into the MRN complex and initiates the DNA damage response. Furthermore, RAD50 promotes mitotic progression. RAD50 missense variants capable of forming an MRN complex supported the DNA damage response and mitotic features to different extents in complementation experiments, indicating these functions are separable and might impact ...
Hanna Redeker, Swantje Kebel, Lea Völkening, Anna Vatselia, Louisa Weinhold, Girmay Asgedom, Axel Schambach, Detlev Schindler, Thilo Dörk, Kristine Bousset   +9 more
wiley   +1 more source

Lysosomal acid lipase deficiency: analysis of enzyme replacement therapy [PDF]

РМЖ. Мать и дитя, 2022
N.A. Polyanskaya1, A.A. Gorbunova2, E.B. Pavlinova1, O.A. Savchenko1, I.A. Kirshina1, M.E. Bagaeva3,4, T.V. Strokova3,4 1Omsk State Medical University, Omsk, Russian Federation 2Regional Children’s Clinical Hospital, Omsk, Russian Federation ...
N.A. Polyanskaya, A.A. Gorbunova, E.B. Pavlinova, O.A. Savchenko, I.A. Kirshina, M.E. Bagaeva, T.V. Strokova   +6 more
doaj  

Enzyme Replacement Therapy for Genetic Disorders Associated with Enzyme Deficiency

Current Medicinal Chemistry, 2022
:Mutations in human genes might lead to the loss of functional proteins, causing diseases. Among these genetic disorders, a large class is associated with the deficiency in metabolic enzymes, resulting in both an increase in the concentration of substrates and a loss in the metabolites produced by the catalyzed reactions. The identification of therapeu-
Marialaura Marchetti, Serena Faggiano, Andrea Mozzarelli   +2 more
openaire   +5 more sources

Optimal management of sarcopenia [PDF]

, 2010
Sarcopenia is the progressive generalized loss of skeletal muscle mass, strength, and function which occurs as a consequence of aging. With a growing older population, there has been great interest in developing approaches to counteract the effects of ...
Burton, Louise A., Sumukadas, Deepa
core   +6 more sources

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

FEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld   +5 more
wiley   +1 more source

Neutralizing anti-drug antibodies in Fabry disease have no obvious clinical impact?

Orphanet Journal of Rare Diseases, 2018
Fabry disease (FD) is a rare X-linked disorder caused by a deficiency of lysosomal α-galactosidase A activity. Treatment with recombinant enzyme replacement therapy is available since 2001 and the effects of anti-drug antibodies (ADA) on therapy efficacy
Malte Lenders, Boris Schmitz, Stefan-Martin Brand, Eva Brand   +3 more
doaj   +1 more source