Results 41 to 50 of about 1,965 (163)

Mucopolysaccharidosis type IIIB: a current review and exploration of the AAV therapy landscape

Neural Regeneration Research
Mucopolysaccharidoses type IIIB is a rare genetic disorder caused by mutations in the gene that encodes for N-acetyl-alpha-glucosaminidase. This results in the aggregation of heparan sulfate polysaccharides within cell lysosomes that leads to progressive
Courtney J Rouse, Victoria N Jensen, Coy D Heldermon   +2 more
doaj   +1 more source

Enzyme replacement therapies: what is the best option? [PDF]

BioImpacts, 2018
Despite many beneficial outcomes of the conventional enzyme replacement therapy (ERT), several limitations such as the high-cost of the treatment and various inadvertent side effects including the occurrence of an immunological response against the ...
Azam Safary, Mostafa Akbarzadeh Khiavi, Rahimeh Mousavi, Jaleh Barar, Mohammad A Rafi   +4 more
doaj   +1 more source

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Findings in Two Cases with Mucopolysaccharidoses

Türk Oftalmoloji Dergisi, 2020
The mucopolysaccharidoses are a group of disorders caused by inherited defects in lysosomal enzymes resulting in widespread intracellular and extracellular accumulation of glycosaminoglycans.
Yalçın Karaküçük, Banu Bozkurt, Merve Şahin, Süleyman Okudan   +3 more
doaj   +1 more source

Status and future of recombinant adeno‐associated virus vector manufacturing

Biotechnology Progress, EarlyView.
Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley   +1 more source

Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation

Diagnostics, 2020
The effectiveness of hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis type II (MPS II, Hunter disease) remains controversial although recent studies have shown HSCT provides more clinical impact.
Yasuyuki Suzuki, Madeleine Taylor, Kenji Orii, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu   +5 more
doaj   +1 more source

The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy

Frontiers in Pharmacology, 2022
Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases (LSDs), characterized by the accumulation of glycosaminoglycans (GAGs).
Anna-Maria Wiesinger, Anna-Maria Wiesinger, Brian Bigger, Brian Bigger, Roberto Giugliani, Maurizio Scarpa, Maurizio Scarpa, Tobias Moser, Christina Lampe, Christina Lampe, Christoph Kampmann, Florian B. Lagler, Florian B. Lagler   +12 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Nail Disorders in Systemic Conditions

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

The Burden of Airway Disease in Mucopolysaccharidoses: Evidence Across Subtypes

The Laryngoscope, EarlyView.
ABSTRACT Objective To synthesize the prevalence and subtype‐specific patterns of airway manifestations in mucopolysaccharidoses (MPS) and summarize related morbidity and mortality. Data Sources PubMed, CINAHL, Ovid Embase, Ovid MEDLINE, and Ovid All EBM Reviews.
Julia Edward, Alix Pincivy, Mathieu Bergeron   +2 more
wiley   +1 more source

The mucopolysaccharidoses and mucolipidosis II and III.

, 2015
* DS: Dermatan sulfate, HS: Heparan sulfate, CS: Chondroitin sulfate, KS: Keratan sulfate, GAGs: glycosaminoglycans.The mucopolysaccharidoses and mucolipidosis II and III.
Tom Wagemans (800563), Wim Kulik (415179), George J. Ruijter (800567), Dirk J. Lefeber (190780), Naomi van Vlies (800568), Ron A. Wevers (145122), Frits A. Wijburg (302135), Eveline J. Langereis (800562), Henk van Lenthe (800564), Esmee Oussoren (800565), Ans T. van der Ploeg (800566)   +10 more
core   +1 more source