Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder. [PDF]
Clin Case RepThis case highlights a rare co‐existence of Morquio syndrome with bronchial asthma and myoclonic seizures, expanding the known clinical spectrum. It emphasizes the need for comprehensive, multidisciplinary management to address multisystem involvement ...
Bastola B +4 more
europepmc +4 more sources
RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A. [PDF]
Mol Genet Metab Rep, 2022 Morquio syndrome A (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficiency of N-acetyl-galactosamine-6-sulfatase (GALNS) which catabolizes the glycosaminoglycans (GAG), keratan sulfate and ...
Sohn YB +10 more
europepmc +3 more sources
Understanding bias when estimating life expectancy from age at death: a simulation approach applied to Morquio syndrome A. [PDF]
BMC Res Notes, 2022 Objective Life expectancy can be estimated accurately from a cohort of individuals born in the same year and followed from birth to death. However, due to the resource-consuming nature of following a cohort prospectively, life expectancy is often ...
Yin X, Ahn J, Boca SM.
europepmc +4 more sources
Morquio Syndrome: A Case Report. [PDF]
Cureus, 2018 Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare autosomal recessive lysosomal storage disease. The main features include skeletal defects and possible cardiopulmonary complications.
Ramphul K +2 more
europepmc +6 more sources
Mucopolysaccharidosis type 4 (Morquio syndrome): A case report [PDF]
JCEM Case Rep, 2023 Introduction Mucopolysaccharidosis (MPS) IVA (Morquio syndrome) is a rare lysosomal storage disease, that is caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS) due to an autosomal recessive mutation in the GALNS gene.
Seçkin Akçay +4 more
europepmc +3 more sources
Anesthetic and Airway Management in a Pediatric Patient with Morquio Syndrome: A Case Report. [PDF]
Acta Med PhilippMorquio syndrome is a subtype of mucopolysaccharidoses, wherein the accumulation of glycosaminoglycans (GAGs) in various organ systems lead to alteration of anatomy and physiology.
Garcia YKG, Reyes CRB.
europepmc +2 more sources
Automated Assessment of Thoracic-Abdominal Asynchrony in Patients with Morquio Syndrome. [PDF]
Diagnostics (Basel), 2021 Morquio syndrome is a rare disease caused by a disorder in the storage of mucopolysaccharides that affects multiple organs, including musculoskeletal, respiratory, cardiovascular, and digestive systems. Respiratory failure is one of the leading causes of
Ratnagiri MV +5 more
europepmc +2 more sources
Dental Considerations for the Treatment of Patients with Morquio Syndrome. [PDF]
Int J Clin Pediatr Dent, 2022 Aim Morquio syndrome, also called Mucopolysaccharidosis IV (MPS IV), is a rare autosomal recessive metabolic lysosomal disorder that results in the deposition of glycosaminoglycans (GAGs) in various tissues and organs, resulting in an array of signs and ...
Vinod A, Raj SN, Anand A, Shirly AD.
europepmc +2 more sources
TAVI-in-TAVI in a patient with morquio syndrome: a case report. [PDF]
Eur Heart J Case RepBackground Morquio syndrome (MPS IV) is a rare multi-systemic disorder with significant cardiovascular implications, including early-onset valvular disease.
Chin DXL +3 more
europepmc +2 more sources
A case report of procedural management of an adult with morquio syndrome undergoing transcatheter aortic valve implantation. [PDF]
Eur Heart J Case RepBackground Morquio syndrome is an autosomal recessive deficiency of N-acetylgalactosamine-6-sulphate, causing an accumulation of glycosaminoglycans that leads to musculoskeletal and cardiopulmonary abnormalities.
Oneto A +5 more
europepmc +2 more sources