Results 81 to 90 of about 335,217 (205)

Clinical Characteristics of a Patient with Mucopolysaccharidosis Type IVA (Morquio Syndrome)

Current Pediatrics, 2023
Mucopolysaccharidosis (MPS) type IVA (Morquio syndrome) is a hereditary lysosomal storage disease caused by deficiency of N-acetylglucosamine-6-sulfate sulfatase.
N. D. Vashakmadze, N. V. Zhurkova, L. K. Mikhaylova, V. Y. Smirnova, G. Revunenkov   +4 more
semanticscholar   +1 more source

Safe intubation in Morquio-Brailsford syndrome: A challenge for the anesthesiologist

Journal of Anaesthesiology Clinical Pharmacology, 2013
Morquio-Brailsford syndrome is a type of mucopolysaccharidoses. It is a rare disease with features of short stature, atlantoaxial instability with risk of cord damage, odontoid hypoplasia, pectus carinatum, spine deformities, hepatomegaly, and ...
Souvik Chaudhuri, Arun Kumar Handigodu Duggappa, Shaji Mathew, Sandeep Venkatesh   +3 more
doaj   +1 more source

Early foramen magnum decompression in a 22-month-old child with Morquio Syndrome: Case report and literature review

Interdisciplinary Neurosurgery, 2022
Introduction: Morquio syndrome is a rare form of mucopolysaccharidosis (Type IV-A) where intelligence is unaffected, skeletal anomalies are frequent and characteristic due to deposition of keratin sulphate in the skeletal system. Craniovertebral junction
Akash Prabhu, MBBS, V. Vivek, MS, MCh, K. Visvanathan, DNB,FRCS, Jayesh Gupta, MBBS, K. Bhaskar Naidu, MS,MCh, K. Ganesh, MCh,DNB   +5 more
doaj   +1 more source

Assessment and management of over-activity and sleep disorder in mucopolysaccharidoses [PDF]

, 2018
There is a growing awareness, based on both research and clinical studies, that abnormal sleep and circadian functioning are associated with the various forms of mucopolysaccharidoses (MPS), with sleep respiratory problems seemingly common in many forms ...
Hare, Dougal, Mahon, Louise, Rust, Stewart   +2 more
core   +2 more sources

Neuronal Ceroid Lipofuscinosis—Concepts, Classification, and Avenues for Therapy

CNS Neuroscience &Therapeutics, Volume 31, Issue 2, February 2025.
This review comprehensively examined the pathogenic genes associated with various NCL subtypes, elucidating their roles, clinical presentations, corresponding mouse models, and the advances in clinical study of potential therapeutics. In particular, we clarified the potential of novel microglial cell replacement therapies in NCLs, providing hope for ...
Yuheng Zhang, Bingying Du, Miaozhan Zou, Bo Peng, Yanxia Rao   +4 more
wiley   +1 more source

Mucopolysaccharidosis type IVA in children: Clinical cases

Кубанский научный медицинский вестник, 2022
Background. Mucopolysaccharidosis type IVA (Morquio syndrome) is a rare genetic lysosomal storage disease. Due to rarity, the syndrome is typically diagnosed at a later stage of gross affections of musculoskeletal and central nervous systems, leading to ...
A. V. Burlutskaya, N. V. Savel′eva, G. V. Naumenko   +2 more
doaj   +1 more source

Staphylococcal enterotoxin B influences the DNA methylation pattern in nasal polyp tissue : a preliminary study [PDF]

, 2013
Staphylococcal enterotoxins may influence the pro-inflammatory pattern of chronic sinus diseases via epigenetic events. This work intended to investigate the potential of staphylococcal enterotoxin B (SEB) to induce changes in the DNA methylation pattern.
Bachert, Claus, De Meyer, Tim, Denil, Simon, Perez Novo, Claudina, Trooskens, Geert, Van Cauwenberge, Paul, Van Criekinge, Wim, Zhang, Luo, Zhang, Yuan   +8 more
core   +2 more sources

Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype

JIMD Reports, 2021
Background Morquio B disease (MBD) is a distinct GLB1‐related dysostosis multiplex presenting a mild phenocopy of GALNS‐related Morquio A disease. Previously reported cases from European countries carry the W273L variant on at least one GLB1 allele and ...
Sylvia Stockler‐Ipsiroglu, Nahid Yazdanpanah, Mojgan Yazdanpanah, Marioara Moisa Popurs, Nataliya Yuskiv, Mara Lúcia Schmitz Ferreira Santos, Chong Ae Kim, Carolina Fischinger Moura de Souza, Charles Marques Lourenço, Carlos Eduardo Steiner, Andressa Federhen, Luciana Giugliani, Débora Maria Bastos Pereira, Luz Elena Durán‐Carabali, Roberto Giugliani   +14 more
doaj   +1 more source

Suspected Posttraumatic Mandibular Coronoid Hyperplasia and Condylar Hypoplasia: Two Case Reports and Literature Review

Case Reports in Dentistry, Volume 2025, Issue 1, 2025.
Changes in the size of the coronoid process, due to hyperplasia or hypoplasia, may interfere with the normal range of mouth opening. Coronoid hyperplasia is a rare oral and maxillofacial disease which might result in progressive limitation of mouth opening due to the impingement of an abnormal elongated mandibular coronoid process on the zygomatic arch.
Areeg Elmusrati, Mariela Padilla, Asja Celebic   +2 more
wiley   +1 more source

Versatile and Efficient Protein Association Through Chemically Modified Sphingomyelin Nanosystems (SNs) for Enhanced Delivery

ChemBioChem, Volume 25, Issue 23, December 2, 2024.
Graphic representation of the work carried out in this research, the main objective of which was the development of a nanoplatform for the efficient delivery of proteins (Protein Sphingomyelin Nanosystems; P‐SNs), regardless of their molecular weight (MW), net charge, or isoelectric point (pI).
Marcelina Abal‐Sanisidro, Olaia Nieto‐García, Cristina Cotelo‐Costoya, María de la Fuente   +3 more
wiley   +1 more source