Results 31 to 40 of about 3,483 (174)

ENT and mucopolysaccharidoses [PDF]

Italian Journal of Pediatrics, 2018
The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the enzymes involved in glycosaminoglycan (GAG) catabolism. Over time, GAGs accumulate in cells and tissues causing progressive damage, a variety of multi-organ clinical manifestations, and premature death.
Pier Marco Bianchi, Renato Gaini, Silvano Vitale   +2 more
openaire   +3 more sources

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

Orphanet Journal of Rare Diseases, 2017
Background Mucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there are several challenges to conducting
Arunabha Ghosh, Elsa Shapiro, Stewart Rust, Kathleen Delaney, Samantha Parker, Adam J Shaywitz, Adelaida Morte, Gillian Bubb, Maureen Cleary, Tien Bo, Christine Lavery, Brian W Bigger, Simon A Jones   +12 more
doaj   +1 more source

Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis

JIMD Reports, 2021
Background Mucopolysaccharidoses (MPS) is a group of hereditary multisystemic lysosomal disorders. Most neuroimaging studies in MPS have focused on the supratentorial compartment and craniocervical junction abnormalities, and data regarding posterior ...
Roberta Reichert, Juliano A. Pérez, Amauri Dalla‐Corte, Filippo Pinto e Vairo, Carolina F. M. deSouza, Roberto Giugliani, Gustavo R. Isolan, Marco Antonio Stefani   +7 more
doaj   +1 more source

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

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

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

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