Results 51 to 60 of about 3,016 (187)

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease [PDF]

, 2018
Background Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (GALNS) gene.
Caciotti, Anna, Cooper, David N., Deodato, Federica, Gasperini, Serena, Guerrini, Renzo, Morrone, Amelia, Mort, Matthew, Parenti, Giancarlo, Parini, Rossella, Rigoldi, Miriam, Sibilio, Michelina, Taurisano, Roberta, Tonin, Rodolfo   +12 more
core   +4 more sources

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

Synthesis of an N‐Galactosyl Norbornane Aziridine and its Potent Mixed Inhibition of Aspergillus oryzae β‐Galactosidase

ChemBioChem, Volume 26, Issue 23, November 27, 2025.
An N‐galactosyl aziridine is found to have μM range mixed inhibition constants (Ki and Ki’) for a fungal β‐galactosidase. Aziridine‐bearing cyclic polyols are established as irreversible covalent inhibitors of glycosyl hydrolases and have been employed as activity‐based probes. In the present study, the stereoselective synthesis of a novel N‐galactosyl
Aaron McCormack, Ronan Gavin, Mikael Bols, Paul V. Murphy   +3 more
wiley   +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

Morquio syndrome: A radiological diagnosis

CHRISMED Journal of Health and Research, 2015
Mucopolysaccharidoses (MPS) are a family of inherited metabolic diseases that results from the deficiency of lysosomal enzymes involved in the degradation of the glycosaminoglycans (MPS).
Sadhanandham Shrinuvasan, Ranganathan Chidambaram   +1 more
doaj   +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

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

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

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