Results 31 to 40 of about 3,952,882 (246)

A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy.

, 2014
Enzyme replacement therapy is currently the only approved treatment for Pompe disease, due to acid α-glucosidase deficiency. Clinical efficacy of this approach is variable, and more effective therapies are needed.
Della Casa R, RAVAGLIA, SABRINA MARIA, Ombrone D, DE FILIPPI, PAOLA, Porto C, DANESINO, CESARE, Fecarotta S, la Marca G, Pichiecchio A, Donati MA, Andria G., Rossi B, Parenti G, Rosa M, Morandi LO, Nusco E, Ascione S, Romano A, Mollica C, Agovino T, Sacchini M, Pasanisi MB, Barbara Rossi, Caterina Porto, Sabrina Ravaglia, Serena Ascione, Margherita Rosa, Daniela Ombrone, Cesare Danesino, Edoardo Nusco, Simona Fecarotta, Anna Pichiecchio, Giancarlo la Marca, Maria Alice Donati, Maria Barbara Pasanisi, Michele Sacchini, Teresa Agovino, Lucia Ovidia Morandi, Alfonso Romano, Giancarlo Parenti, Roberto Della Casa, Paola De Filippi, Carmine Mollica, Generoso Andria   +43 more
core   +1 more source

EVALUATION OF ENZYME REPLACEMENT THERAPY EFFECTIVENESS IN CHILDREN WITH GAUCHER’S DISEASE ACCORDING TO THE INTERNATIONAL STUDIES

Педиатрическая фармакология, 2014
The article presents data on the history of creation of pathogenetic enzyme replacement therapy and its introduction into clinical practice of managing patients with Gaucher’s disease.
O. S. Gundobina, G. B. Movsisyan, L. S. Namazova-Baranova   +2 more
doaj   +1 more source

Engineering peptides into antibodies—opportunities and strategies for therapeutic innovation

FEBS Letters, EarlyView.
Peptides and antibodies occupy complementary therapeutic niches. Peptides recognize difficult targets in a compact format, while antibodies add specificity, long half‐life, and effector functions. This review examines strategies that merge both modalities—peptide grafting into loops, terminal and Fc fusions, and bioconjugation—highlighting how ...
Jinling Wang, Ruslana Romaniuk, Hristo L. Svilenov   +2 more
wiley   +1 more source

Symptomatic increase in intracranial pressure following pancreatic enzyme replacement therapy for cystic fibrosis [PDF]

, 1995
A newly diagnosed 5-month-old infant with cystic fibrosis (CF) developed signs and symptoms of increased intracranial pressure (ICP) within days of starting pancreatic enzyme replacement therapy. Symptoms promptly resolved on two occasions after stopping
Denise Schaffert, Samya Z. Nasr, Nasr, Samya Z., Schaffert, Denise   +3 more
core   +1 more source

Liver organoids: modelling complexity in homeostasis and disease

FEBS Letters, EarlyView.
Studying liver in vitro has been challenging because simple 2D cell cultures fail to capture liver's cellular and architectural complexity. To bridge this gap, scientists increasingly use organoids, 3D liver models which better mimic liver composition and function. This review examines recent advances in liver organoid complexity and realism, discusses
Anna M. Dowbaj, Meritxell Huch
wiley   +1 more source

Adequate hemodialysis does not compromise the cardioprotective effect of agalsidase alfa on patients with Fabry disease: a case report

Journal of Medical Case Reports
Background Fabry disease is an inherited lysosomal storage disease that can be reversed, or the progression slowed, by enzyme replacement therapy in the early stage.
Xiansen Wei, Shimin Jiang, Li Zhuo, Hong Jiang, Wenge Li   +4 more
doaj   +1 more source

Prospecting the protein design landscape

FEBS Letters, EarlyView.
This review outlines the current state of various protein design approaches. We discuss the current possibilities enabled by recently released tools, highlight future avenues to pursue in protein design, and underscore the crucial role of key databases and resources for successful protein design workflows.
Jakob R. Riccabona, Katharina T. Stonig, Jens Meiler, Clara T. Schoeder, Monica L. Fernández‐Quintero   +4 more
wiley   +1 more source

EFFECTIVENESS AND SAFETY OF VELAGLUCERASE ALFA IN TREATMENT OF GAUCHER DISEASE TYPE 1 (ACCORDING TO INTERNATIONAL STUDIES)

Педиатрическая фармакология, 2014
The article is dedicated to modern approaches to treatment of Gaucher’s disease. The authors list the primary aspects of the disease and present data on the origin and introduction of pathogenetic enzyme replacement therapy to clinical practice.
O. S. Gundobina, G. B. Movsisyan, E. V. Komarova, L. S. Namazova-Baranova   +3 more
doaj   +1 more source

Lentiviral vectors for gene therapy of Gaucher disease [PDF]

, 2015
Gaucher disease (GD), a recessive disorder characterised by hepatosplenomegaly, pancytopenia and skeletal complications, is caused by deficiency of the enzyme glucocerebrosidase (GC).
Aitchison, KL
core  

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

, 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