Results 61 to 70 of about 1,770 (187)
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
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
Mortality in Patients with Morquio Syndrome A [PDF]
, 2014 Morquio syndrome A (mucopolysaccharidosis type IVA) is an autosomal recessive, life-limiting lysosomal storage disease characterized by deficient activity of the enzyme galactosamine-6-sulfatase. The disease affects multiple body systems, and patients require multidisciplinary care from an early age.To better understand the natural progression of the ...
Christine, Lavery, Chris, Hendriksz
openaire +2 more sources
Medicine Development and Access for Rare Diseases: Can We Do Better?
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Recent advances in molecular biology and genomics have significantly enhanced our understanding of rare diseases. While enabling the development of highly targeted therapies, it also leads to complexity in the development, regulation, and accessibility of orphan medicines.
Carla E. M. Hollak +14 more
wiley +1 more source
Psychological health in adults with Morquio syndrome [PDF]
Molecular Genetics and Metabolism, 2014 Mucopolysaccharidosis type IV (MPSIV), also known as Morquio syndrome, is a progressive genetic condition which predominantly affects skeletal development. Research thus far has focused on physical manifestations, with little attention to psychological characteristics.
Nadia, Ali, S, Cagle
openaire +2 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 (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
, 2020 Mucopolysaccharidosis IVA is an autosomal recessive condition caused by mutations in the GALNS gene, which encodes N-acetylgalactosamine-6-sulfatase, also called galactosamine-6-sulfatase (GALNS).
Alden, Tord D. +10 more
core +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
Cervical involvement in Morquio syndrome
The Spine Journal, 2015 …
Büyükkaya, Ayla +2 more
openaire +2 more sources