Heliox in the management of respiratory failure in a Morquio A syndrome patient with trachea narrowing [PDF]
Respiratory Medicine Case ReportsMorquio A Syndrome is a mucopolysaccharide deposition disease where patients can develop respiratory failure due to airway narrowing by polysaccharide deposition, anatomical distortion and compression of the airway.
Minghan Shi, Birubi Biman
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Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series [PDF]
Orphanet Journal of Rare Diseases, 2021 Background This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records.
Sebile Kılavuz +8 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
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Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome [PDF]
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
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Voice alterations in patients with Morquio A syndrome. [PDF]
J Appl Genet, 2018 Morquio A syndrome, or mucopolysaccharidosis (MPS IV A), is an inherited lysosomal storage disorder which belongs to the group of mucopolysaccharidoses (MPSs). It is caused by N-acetylgalactosamine-6-sulfatase (GALNS) activity deficiency, which results in impaired degradation of glycosaminoglycans (GAGs), including keratan sulfate (KS) and chondroitin ...
Szklanny K +2 more
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Hematopoietic stem cell transplantation for Morquio A syndrome. [PDF]
Mol Genet Metab, 2016 Morquio A syndrome features systemic skeletal dysplasia. To date, there has been no curative therapy for this skeletal dysplasia. No systemic report on a long-term effect of hematopoietic stem cell transplantation (HSCT) for Morquio A has been described.
Yabe H +9 more
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Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis
JMIR Research ProtocolsBackgroundMucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is a rare lysosomal storage disease characterized by autosomal recessive inheritance of mutations in the N-acetylgalactosamine-6-sulfatase ...
Lorena Diaz-Ordoñez +5 more
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Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome. [PDF]
J Inherit Metab Dis, 2016 OBJECTIVE: To present long-term respiratory function outcomes from an open-label, multi-center, phase 3 extension study (MOR-005) of elosulfase alfa enzyme replacement therapy (ERT) in patients with Morquio A syndrome.
Hendriksz CJ +14 more
europepmc +5 more sources
Pediatric Dental Management of an Uncommon Case of Mucopolysaccharidosis Type IV A (Morquio A Syndrome): A Case Report of a Three-Year Follow-Up [PDF]
Case Reports in Dentistry, 2020 Mucopolysaccharidosis type IV A or Morquio syndrome is an uncommon inherited metabolic condition caused by the deficient intralysosomal storage of glycosaminoglycans.
Andrea Gómez-González +4 more
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Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center [PDF]
Molecular Genetics and Metabolism Reports, 2020 Introduction: Mucopolysaccharidosis type IV A (MPS IVA) or Morquio A syndrome is an autosomal recessive lysosomal storage disease caused by GALNS gene mutations that lead to a deficiency of the N-acetylgalactosamine-6-sulfate sulfatase enzyme and the ...
Andrés Felipe Erazo-Narváez +3 more
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