Elosulfase alfa enzyme replacement therapy attenuates disease progression in a non-ambulatory Japanese patient with Morquio A syndrome (case report) [PDF]
Molecular Genetics and Metabolism Reports, 2017 Enzyme replacement therapy (ERT) with elosulfase alfa is the only approved therapy in Japan for patients with Morquio A syndrome, a lysosomal storage disorder inherited in an autosomal recessive fashion.
Misako Hiramatsu, Kimitoshi Nakamura
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Simultaneous bilateral total hip arthroplasty in Morquio syndrome
Arthroplasty Today, 2017 A 16-year-old girl who had Morquio syndrome presented with severe bilateral hip pain and limited mobility because of bilateral hip osteoarthritis and fixed flexion deformities. She was wheelchair bound for the previous 6 months.
Imran Ilyas, MCh (Orth), FRCS +3 more
doaj +2 more sources
Mucopolysaccharidoses type IV A (Morquio syndrome): A case series of three siblings
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2012 Mucopolysaccharidoses (MPS) are a family of inherited metabolic diseases that results from the deficiency of lysosomal enzymes involved in the degradation of the glycosaminoglycans (mucopolysaccharides).
P Rekka +3 more
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International guidelines for the management and treatment of Morquio A syndrome. [PDF]
Am J Med Genet A, 2015 Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Hendriksz CJ +8 more
europepmc +2 more sources
Hematopoietic stem cell transplantation for Morquio A syndrome [PDF]
Molecular Genetics and Metabolism, 2016 Hiromasa Yabe +2 more
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Current therapies for Morquio A syndrome and their clinical outcomes [PDF]
Expert Opinion on Orphan Drugs, 2016 Kazuki Sawamoto +2 more
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Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia
JBMR Plus, Volume 7, Issue 12, December 2023., 2023 We identified differences in cytokine expression in multiple types of pediatric skeletal dysplasia as compared to typically growing children. Four of the 12 analyzed cytokines demonstrated elevated expression above control levels in all of the dysplasia cohorts (IL‐12, IL‐13, IP‐10, RANTES) and 2 demonstrated expression below control levels across all ...
David A. O'Connell +6 more
wiley +1 more source
Anaesthetic considerations of adults with Morquio's syndrome - a case report
BMC Anesthesiology, 2010 Background The anaesthetic management of patients with Morquio syndrome is complicated by a number of factors including odontoid hypoplasia, atlantoaxial instability, thoracic kyphosis, and deposition of mucopolysaccharides in the soft tissue of the ...
Donnelly Maria B +3 more
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Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism
Clinical and Translational Science, Volume 16, Issue 12, Page 2438-2457, December 2023., 2023 Abstract This paper summarizes key features of the dose‐finding strategies used in the development of 11 approved new molecular entities that are first‐in‐class enzyme replacement therapy (ERT), with a goal to gain insight into the dose exploration approaches to inform efficient dose‐finding in future development of biological products for Inborn ...
Yuen Yi Hon +8 more
wiley +1 more source
Advances in therapies for neurological lysosomal storage disorders
Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 874-905, September 2023., 2023 Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins. The lysosome is a cellular organelle that plays a critical role in catabolism of waste products and recycling of macromolecules in the body.
S. Ellison, H. Parker, B. Bigger
wiley +1 more source