Results 41 to 50 of about 21,517,347 (239)
Stem cell research & therapeutics, 2021 Mucopolysaccharidosis IVA (Morquio A syndrome) is a lysosomal storage disease caused by the deficiency of enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), which results in the accumulation of the glycosaminoglycans (GAGs), keratan sulfate, and ...
M. Flanagan +6 more
semanticscholar +1 more source
Automated Assessment of Thoracic-Abdominal Asynchrony in Patients with Morquio Syndrome
Diagnostics, 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
Madhavi V. Ratnagiri +5 more
doaj +1 more source
THE ROENTGENOGRAPHIC FEATURES OF THE KS MUCOPOLYSACCHARIDOSIS OF MORQUIO (MORQUIO-BRAILSFORD'S DISEASE) [PDF]
American Journal of Roentgenology, 1966 The criteria for the roentgenologic diagnosis of Morquio's disease are presented, based on an analysis of 16 patients. Diagnostic findings are seen in the teeth, spine, pelvis and the hand and wrist. The diagnosis can be established at an age when signs and symptoms become evident.
L O, Langer, L S, Carey
openaire +2 more sources
Elosulfase Alfa Treatment in Morquio A Patients in Iran: A Before and After Study
Iranian Journal of Pediatrics, 2021 Background: Morquio A, an autosomal recessive lysosomal storage disease, is caused by a defect in the enzyme N-acetyl-galactosamine-6-sulfatase. This leads to the accumulation of the glycosaminoglycans chondroitin-6-sulfate (C6S) and keratan sulfate (KS),
M. Alaei +7 more
semanticscholar +1 more source
Pectus carinatum as the key to early diagnosis of Morquio A syndrome: a case report
Journal of Medical Case Reports, 2021 A 20-month-old Asian boy with normal growth presented with genu valgum, kyphosis, and pectus carinatum, with no neurological symptoms. No other symptoms suggestive of mucopolysaccharidoses, for example joint contracture and peculiar facies, were present.
Kento Yamauchi +3 more
semanticscholar +1 more source
Plasma Proteomic Analysis in Morquio A Disease
International Journal of Molecular Sciences, 2021 Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal disease caused by mutations in the gene encoding the enzymeN-acetylgalactosamine-6-sulfate sulfatase (GALNS), and is characterized by systemic skeletal dysplasia due to excessive storage of keratan ...
J. Alvarez +8 more
semanticscholar +1 more source
Molecular Genetics and Metabolism Reports, 2017 Morquio A disease (Mucopolysaccharidosis type IVA, MPS IVA) is one of the 11 mucopolysaccharidoses (MPSs), a heterogeneous group of inherited lysosomal storage disorders (LSDs) caused by deficiency in enzymes need to degrade glycosaminoglycans (GAGs ...
Bruna Donida +10 more
doaj +1 more source
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
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
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
doaj +1 more source