Results 61 to 70 of about 2,011 (197)
Tracheal Resection for Critical Airway Obstruction in Morquio A Syndrome
Case Reports in Pediatrics, 2023 Introduction. The primary cause of death in Morquio A syndrome (mucopolysaccharidosis (MPS) IVA) is airway obstruction, brought about by an inexorable and pathognomonic multilevel airway tortuosity, buckling, and obstruction.
Claire Frauenfelder +10 more
doaj +1 more source
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza +3 more
wiley +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 +3 more
doaj +1 more source
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 +5 more
doaj +1 more source
ChemBioChem, Volume 26, Issue 23, November 27, 2025.An N‐galactosyl aziridine is found to have μM range mixed inhibition constants (K i and K i’) 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.
Aaron McCormack +3 more
wiley +1 more source
Cervical involvement in Morquio syndrome
The Spine Journal, 2015 …
Büyükkaya, Ayla +2 more
openaire +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 +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 +2 more
doaj +1 more source
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 +14 more
doaj +1 more source