Results 71 to 80 of about 335,224 (186)
Development of Bone Targeting Drugs. [PDF]
, 2017 The skeletal system, comprising bones, ligaments, cartilage and their connective tissues, is critical for the structure and support of the body. Diseases that affect the skeletal system can be difficult to treat, mainly because of the avascular cartilage
Alméciga-Díaz, Carlos J. +6 more
core +2 more sources
Mucopolysaccharidosis type 4 (Morquio syndrome): A case report
JCEM Case Reports, 2023 Abstract 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.
Akçay, Seçkin +4 more
openaire +1 more source
Clinical Therapeutics, 2017 PURPOSE Elosulfase alfa is an enzyme replacement therapy for the treatment of Morquio A syndrome (mucopolysaccharidosis IVA), a lysosomal storage disorder caused by a deficiency of the enzyme N-acetylgalactose-amine-6-sulfatase.
B. Long +8 more
semanticscholar +1 more source
BMC Research 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 ...
Xue Yin, Jaeil Ahn, Simina M. Boca
doaj +1 more source
Successful airway management with King Vision device in a child with Morquio syndrome: case report
Revista de la Facultad de Ciencias de la Salud, 2017 Morquio syndrome also called type IV mucopolysaccharidosis, is a condition produced by lysosomal deposit. Morquio syndrome have several implications in the airway management because is characterized by C1-C2, instability, short height, cervical spine ...
Lina Maritza Guerra +2 more
doaj +2 more sources
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
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
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
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