Results 71 to 80 of about 335,217 (205)
Total Hip Arthroplasty in a Patient with Mucopolysaccharidosis Type IVB
Case Reports in Orthopedics, 2021 Introduction. Morquio syndrome or mucopolysaccharidosis (MPS) type IV is a rare autosomal recessive lysosomal storage disease, characterized by abnormal metabolism of glycosaminoglycans associated with specific skeletal deformities, also known as ...
Yannick N. T. van den Eeden +4 more
doaj +1 more source
Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome [PDF]
, 2016 Long-term efficacy and safety of elosulfase alfa enzyme replacement therapy were evaluated in Morquio A patients over 96weeks (reaching 120weeks in total from pre-treatment baseline) in an open-label, multi-center, phase III extension study.
AlSayed, MD +16 more
core +1 more source
A 16-year-old Girl with Morquio Syndrome: A Case Report
BIRDEM Medical Journal, 2018 Morquio syndrome is a rare autosomal recessive disorder of mucopolysaccharide metabolism, also called mucopolysaccharidosis type IV. We report a case of Morquio syndrome in a16-year- old girl of normal intelligence, who got herself admitted in ...
A. M. R. Bhuiyan +4 more
semanticscholar +1 more source
Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype
Case Reports in Medicine, 2013 Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate.
Albina Tummolo +7 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2017 Morquio A syndrome is an ultra-rare, inherited lysosomal storage disorder associated with progressive, multi-systemic clinical impairments, causing gradual loss of functional capacity and endurance, impaired quality of life, and early mortality.
Rudolf Schrover +4 more
doaj +1 more source
Adult Morquio syndrome requiring occipito-thoracic fusion
Journal of Orthopaedic Surgery, 2020 Morquio syndrome is a relatively rare entity that is often associated with atlantoaxial instability from early childhood due to odontoid dysplasia based on a mucopolysaccharoidal disorder.
Ryosuke Okumura +6 more
doaj +1 more source
Anaesthetic challenges faced in a child with Morquio syndrome- An orphan disease
Indian Journal of Clinical Anaesthesia, 2023 : Morquio syndrome is a progressive lysosomal storage disorder leading to accumulation of glycosaminoglycans in the soft tissue, cartilage, and bone causing skeletal dysplasia.
T. Ahmed +2 more
semanticscholar +1 more source
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 +12 more
core +4 more sources
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
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 +3 more
wiley +1 more source